Dr. Shantha Hettiarachchi
The marriage is expressed by the most of Sri Lankans as Bamba ketoo hati in their words. It means that the marriage is decided through unseen powers such as Brahma.
Prior to the marriage, matching of the partners will take place according to their ethnic and religious concepts too. Nevertheless, it may get revealed that this type of matching, is incomplete when the couple get a new born baby with hereditary disorders. Hence, a few more matching of marital partners should be completed to avoid these easily preventable problems.
Thalassemia represent a higher position in the list of preventable hereditary disorder through screening, clinical matching and marriage counseling. It has a long history, over 50,000 years in the world. Thalassemia is derived from a Greek word of Thalasa means ‘sea’ because it was found in a valley south of Italy and Greece covered by the Mediterranean sea.
The Thalassemias are the commonest inherited haematological disorders and also the commonest single gene disorders in the world population. It is also a major cause of mortality and morbidity in South East Asian region. It is a significant burden to the health services and economy of many countries.
A basic knowledge on blood and anaemia is necessary to understand about thalassemia. The blood consists of cells and the liquid part of plasma. The white blood cells, red blood cells and platelets represent the cellular elements of the blood. A red coloured, oxygen carrying pigment, called hemoglobin is found in the red blood cells. Hemoglobin is essential for body metabolism as it carries oxygen to the cells of every tissues and organs. A person will develop anaemia, when there is a decrease in the level of hemoglobin in the blood below the reference level for the age and sex.
This genetic hemotological disorder of thalassemia is characterized by absent or decreased production of normal hemoglobin, resulting an anaemia. The hemoglobin molecule consists of a hem and globin. The protein moiety of globin synthesis is impaired, as there is a mutation of the genes in thalassemia. According to these mutations, synthesis of the main globin chains, namely alpha and beta is markedly reduced. Eventually, it leads to a decreased production of haemoglobin with anaemia. Then the disease state is named as beta thalassemia or alpha thalassemia, depending on the relevant type of globin chain, production of which is impaired due to this disorder.
There are two forms of thalassemia, called as thalassemia major with clinical manifestations and thalassemia minor without clinical manifestations. Thalassemia major is a severe inherited childhood anemia in which hemoglobin synthesis is highly inadequate. These children are normal at birth but become grossly anaemic within the first year of life with failure to grow, poor feeding, intermittent fever and delay in improving from recurrent infective illnesses.
They need regular blood transfusions in life to avoid fatal complications and to secure optimum growth and development. As the red blood cells in the transfused blood are broken down, the iron released from these cells are accumulated in their body. The overload of iron can damage the vital organs, such as heart, liver and pancreas to cause heart failure, liver disease and diabetes. Therefore iron chelation therapy with the drugs such as Desferrioxamine has to be continued concurrently with blood transfusion to avoid these complications by removing extra iron from the body.
The persons with thalassaemia minor, known as carriers of thalassemia are healthy and normal but some of them can manifest milder degree of anemia. This carrier stage is commonly discovered while they are undergoing a test of blood picture for some other circumstances.
The beta thalassemia is the most important form of thalassemia, causing a major public health problem in many countries. It was estimated that 1.5 percent of world population are carriers of beta thalassemia and around 70,000 beta thalassemic babies are born annually.
The alpha thalassemias are commoner than the beta thalassemias but the consequent public health problems are less as the mild form of the disease do not produce major disabilities.
Currently, more than 2500 children are living with thalassaemia major in Sri Lanka. The highest number of patients are reporting in Kurunagala, Kandy, Anuradhapura and Badulla districts. About one hundred new patients are accumulating to the total number annually.
The country has to allocate 7 percent to 10 percent from total health expenditure for the clinical management, necessary for these patients. It was stated that the expenditure is around ten million rupees in managing one thalassaemic patient in a lifetime.
If both partners are thalassemic carriers there will be a 25 percent chance of giving birth to baby with thalassemia. If the thalassemic carrier marries a normal partner there will be no risk of getting a thalassemic baby.
There is no possibility in having a thalassemic baby, when there is a marriage between a thalassemic patient and a normal partner too. Therefore, prevention from thalassemia is not a difficult task if the people have a basic knowledge on these simple scientific facts.
The thalassemia carrier state could be identified by simple blood tests. It is very important to know whether they are carriers of the disease prior to marriage, especially when they are living in areas with high prevalence of thalassemia, such as North central, North Western, Uva, Central and Western provinces of Sri Lanka.
The one essential act to avoid is the marriage between two thalassaemic carriers. As the facilities in screening for thalassemia and counseling are currently available provincially, the public will have the responsibility to use these services wisely.
May 8 marks the World Thalassemia Day. It should be noted that the quality of life of the thalassemic patients, is improving from day to day with the advances in treatment. While giving proper care to the people who has developed the disease, every body should try their level best to prevent the disease.
4/19/10
Pulmonary Hypertension in Thalassemia
Written by Craig Butler
Pulmonary Hypertension in Thalassemia
Pulmonary hypertension is a complication that occurs in some individuals with thalassemia. (Although it can occur in both thalassemia major and thalassemia intermedia, it is considered by CAF Medical Advisory Board Chair Ellis Neufeld to be a big problem in adults with intermedia and of possible rising significance in adults with major as they age.) Below, CAF speaks with Claudia R. Morris, MD, of Children’s Hospital and Research Center Oakland about pulmonary hypertension and thalassemia and about some current clinical trials in this area. These trials, which include a multi-center Thalassemia Clinical Research Network trial, are ongoing and are currently recruiting subjects.
CAF: Pulmonary hypertension is high blood pressure occurring in the arteries in the lungs. Why is this something which occurs in people with thalassemia, especially people with thalassemia intermedia? Is blood pressure in the lungs measured in a different method than “typical” blood pressure?
Dr. Morris: Pulmonary hypertension is a serious medical condition that can contribute to early death. There are many reasons why a patient with thalassemia may be at increased risk for developing pulmonary hypertension. Mechanisms that include:
• a history of splenectomy,
• the biological consequences of hemolysis (the breaking down of red blood cells),
• abnormal coagulation (the way that blood forms clots),
• iron overload from chronic blood transfusions with subsequent damage to the heart,
• inflammation and
• the effects of advancing age that deplete an individual’s ability to counterbalance oxidative stress
all contribute to this increased risk.
During hemolysis, molecules are released from the ruptured red blood cell that consume an important vasodilator called “nitric oxide.” (A vasodilator widens the blood vessels, allowing blood to travel more easily.) As nitric oxide levels decrease, vessels constrict, contributing to high blood pressures in the artery that connects the heart to the lungs. Sticky platelets and other clumping cells can lead to blood clots in these vessels called “pulmonary emboli,” which also cause increased blood pressure in the pulmonary arteries. It turns out that most medical conditions associated with hemolysis also have a high frequency of pulmonary hypertension. (Hemolysis is more of an issue in thalassemia intermedia, which is one reason why pulmonary hypertension tends to be more often associated with intermedia than major. -Ed.)
Blood pressure in the lungs is measured differently than a typical “blood pressure” performed on your arm. The gold standard test for pulmonary hypertension is a procedure called a right-side cardiac catheterization. This involves passing a thin flexible tube (catheter) into the right side of the heart, usually passing through vessels in the groin or arm. This study is done by a trained cardiologist. A Doppler echocardiogram (a non-invasive test to estimate pulmonary artery pressures that is functionally an ultrasound of your heart and lung vessels) is then conducted and used to identify patients who are at risk for having pulmonary hypertension.
Sildenafil is used to treat pulmonary hypertension in the non-thalassemic population. Is it used to treat other conditions as well? Are there any typical side effects that are currently thought to be associated with its use (in the non-thalassemic population)? Why can’t we just assume that sildenafil will be as safe for people with thalassemia as it is for other patients?
Sildenafil is one of over 10 medications that is FDA-approved to treat pulmonary hypertension. Although sildenafil is effective in treating pulmonary hypertension, it has not specifically been studied in patients with thalassemia. Thalassemia patients are different from patients with other forms of pulmonary hypertension (and thalassemia major is different from thalassemia intermedia), and these differences may affect the way they respond to certain medications. This is why studies determining the best way to treat pulmonary hypertension in patients with thalassemia are needed. (Since sildenafil does not at this point have a label indication for use in thalassemia, an organized clinical trial can provide a good, safe setting for a thalassemia patient to try sildenafil as a possible treatment option for pulmonary hypertension. - Ed.)
Also known as Viagra, sildenafil has gotten its reputation as a successful treatment for erectile dysfunction in addition to its role as a therapy for pulmonary hypertension. It is also used to treat high altitude sickness.
As with any medication, there are several side-effects that can occur with sildenafil use, although it is generally considered safe and well-tolerated. In clinical trials (which were not focused on the thalassemia population), the most common side effects included headache, flushing, dyspepsia (indigestion), nasal congestion and impaired vision, including photophobia (light sensitivity) and blurred vision. Rare cases of vision loss have been reported. Other rare but serious side effects include severe hypotension (abnormally low blood pressure), heart attack, stroke, heart arrhythmia and sudden hearing loss. It should not be taken with other nitric oxide donating medications (organic nitrites and nitrates, such as nitroglycerine, sodium nitroprusside, amyl nitrite).
Sildenafil is an oral medication. How is it ingested - as a pill or as a solution?
Sildenafil comes in both a pill and liquid form.
What are the reasons that a person with thalassemia might want to enroll a study for pulmonary hypertension?
There are several reasons why a patient might be interested in participating in clinical trials. Research is very important in order to advance science, contribute to the greater good, and improve medical insight into diseases like thalassemia in order to improve therapies in the future. In particular, if a patient has pulmonary hypertension, it would be of benefit to the patient to have the condition studied further.
Ongoing studies utilize several procedures as part of the study to help determine the most significant contributing factors causing pulmonary hypertension. Pulmonary hypertension is associated with a number of risk factors. It is likely the result of a combination of factors, including coagulation issues, iron overload and the long-term consequences of hemolysis.
Clinical trials help guide future therapy for patients with thalassemia dealing with pulmonary hypertension. It is possible that sildenafil or other FDA approved studies may help improve pulmonary hypertension, although we do not yet know if this therapy will work in patients with thalassemia. Control arms are often included in studies in order to determine the differences between patients who develop a complication like pulmonary hypertension from those who do not.
Researchers hope that this information gained from clinical trials will lead to improved therapies for patients with thalassemia in the future. Participation in clinical trials will insure that progress is made in both our understanding of this complication, and the best alternatives for treatment.
If you or someone you know has thalassemia and pulmonary hypertension, even if they are not interested in participation in a clinical trial, it is important that they see a cardiopulmonary specialist for further evaluation. Although guidelines for the treatment of pulmonary hypertension in thalassemia do not yet exist, specialists in pulmonary hypertension can help provide you with the best options to address this condition.
One pulmonary hypertension study currently under way is a multi-center trial run through the Thalassemia Clinical Research Network (TCRN) evaluating the safety and efficacy of sildenafil for pulmonary hypertension in Thalassemia. In addition to taking sildenafil 3 times a day, patients with pulmonary hypertension will undergo a series of tests during weeks 1, 2, 4, 8 and 12. Can you explain what is involved in these tests? Can all be completed on one day of each visit? Can you estimate the amount of time involved for the tests? And are there any special requirements (e.g., fasting, etc.) required by the tests?
The TCRN sildenafil study, is currently enrolling patients. The main goal of the sildenafil trial is to determine whether sildenafil improves exercise tolerance and walking distance in patients with an abnormal Doppler echo suggesting pulmonary hypertension.
Since you asked about the sildenafil trial, a summary of the procedures follows:
There are many procedures and blood tests that will be done as part of the sildenafil study. It can take 1-2 days to complete all the tests for baseline and final evaluations, while the 2 week evaluation will take several hours. No fasting is required for these tests. The tests and procedures are commonly performed as part of the clinical work-up for pulmonary hypertension.
Tests and Procedures:
• Medical history, review of symptoms and physical exam (performed at every visit)
• 6 minute walk test (performed at every visit): Involves walking around a predetermined path at a comfortable pace for 6 minutes to the distance walked in 6 minutes, which reflects exercise capacity.
• Doppler echocardiograph (week 0 and 12): Noninvasive ultrasound of heart and lung vessels
• Pulmonary Function Tests (week 0 and 12)
• Cardiac MRI (week 0 and 12)
• Chest CT (week 0)
• Blood tests (performed at every visit): Up to 2 tablespoons of blood will be drawn for multiple analyses
• Pregnancy test (in females, performed at every visit)
Another study focusing on pulmonary hypertension and thalassemia evaluates the safety and efficacy of a nutritional supplement called glutamine. It is an 8 week open-label study in patients with thalassemia and echocardiogram evidence of pulmonary hypertension, and involves study visits every 2 weeks, a blood draw and exercise tolerance test (6 minute walk test) at each visit, pulmonary function tests and a Doppler echo pre and post therapy.
The goal of this study is to determine if glutamine therapy replenishes the glutamine deficiency that occurs in the red blood cells of patients with pulmonary hypertension. This is a single center trial enrolling patients at Children’s Hospital & Research Center Oakland. More information on both studies and others targeting thalassemia can be found on
http://clinicaltrials.gov;
or specifically forthe sildenafil trial:
http://clinicaltrials.gov/ct2/show/NCT00872170?term=sildenafil+for+thalassemia&rank=1
and for the glutamine trial:
http://clinicaltrials.gov/ct2/results?term=glutamine+for+pulmonary+hypertension
I’m a little confused concerning what patients without pulmonary hypertension will be required to do in the TCRN sildenafil trial.
The listing states that the control group will attend one to three study visits at baseline; does that mean they will have all the same tests as the pulmonary hypertension group (plus lung function test, chest MRI, CAT, exhaled NO test), but that they might be spread out over two or three visits, rather than all performed at the same visit? And that they will not need to repeat the tests?
The baseline tests performed in patients with pulmonary hypertension will also be performed on control patients without pulmonary hypertension. If planned carefully these tests can all be done in one very busy day. Often it is spread over 2 days given scheduling challenges and the time it takes to have a Chest CT, heart MRI, Doppler echocardiogram, blood draw and 6 minute walk test preformed.
If a person wishes to participate, at what centers is the study being conducted? Who should s/he contact to learn more? Is there any funding available for people who might have transportation/location obstacles?
This is an NIH, NHLBI sponsored study run through the Thalassemia Clinical Research Network. Participating sites are in Boston, MA, New York City, NY, Philadelphia, PA Dallas, TX, Oakland, CA, and Toronto, Canada. Our London, UK and Beirut, Lebanon sites will hopefully be enrolling soon. Please contact Lisa Virzi, the Project Director, for information on the site nearest you, and possible availability of funding for travel if interested in participation.
Lisa Virzi
Project Director/TCRN Network Manager
New England Research Institutes
9 Galen Street
Watertown, MA 02472
Tel: 617- 923-7747 x258
email: lvirzi@neriscience.comThis e-mail address is being protected from spambots. You need JavaScript enabled to view it
Again, more information on these and other studies relevant to thalassemia can be found on clinicaltrials.gov.
I know this is hard to predict, but can you give a general idea of what would happen AFTER the TCRN study is completed, in a best case scenario?
This is a small pilot study. We are hoping to generate data that will lead to larger trials and guide future therapy for pulmonary hypertension in thalassemia. The results of this study will also provide new insight into the causes of pulmonary hypertension in patients with thalassemia. This information is vital in order to design specific therapies that target these specific mechanisms of disease. Best case scenario, this is the first step to better treatment options for patients with pulmonary hypertension and thalassemia.
Pulmonary Hypertension in Thalassemia
Pulmonary hypertension is a complication that occurs in some individuals with thalassemia. (Although it can occur in both thalassemia major and thalassemia intermedia, it is considered by CAF Medical Advisory Board Chair Ellis Neufeld to be a big problem in adults with intermedia and of possible rising significance in adults with major as they age.) Below, CAF speaks with Claudia R. Morris, MD, of Children’s Hospital and Research Center Oakland about pulmonary hypertension and thalassemia and about some current clinical trials in this area. These trials, which include a multi-center Thalassemia Clinical Research Network trial, are ongoing and are currently recruiting subjects.
CAF: Pulmonary hypertension is high blood pressure occurring in the arteries in the lungs. Why is this something which occurs in people with thalassemia, especially people with thalassemia intermedia? Is blood pressure in the lungs measured in a different method than “typical” blood pressure?
Dr. Morris: Pulmonary hypertension is a serious medical condition that can contribute to early death. There are many reasons why a patient with thalassemia may be at increased risk for developing pulmonary hypertension. Mechanisms that include:
• a history of splenectomy,
• the biological consequences of hemolysis (the breaking down of red blood cells),
• abnormal coagulation (the way that blood forms clots),
• iron overload from chronic blood transfusions with subsequent damage to the heart,
• inflammation and
• the effects of advancing age that deplete an individual’s ability to counterbalance oxidative stress
all contribute to this increased risk.
During hemolysis, molecules are released from the ruptured red blood cell that consume an important vasodilator called “nitric oxide.” (A vasodilator widens the blood vessels, allowing blood to travel more easily.) As nitric oxide levels decrease, vessels constrict, contributing to high blood pressures in the artery that connects the heart to the lungs. Sticky platelets and other clumping cells can lead to blood clots in these vessels called “pulmonary emboli,” which also cause increased blood pressure in the pulmonary arteries. It turns out that most medical conditions associated with hemolysis also have a high frequency of pulmonary hypertension. (Hemolysis is more of an issue in thalassemia intermedia, which is one reason why pulmonary hypertension tends to be more often associated with intermedia than major. -Ed.)
Blood pressure in the lungs is measured differently than a typical “blood pressure” performed on your arm. The gold standard test for pulmonary hypertension is a procedure called a right-side cardiac catheterization. This involves passing a thin flexible tube (catheter) into the right side of the heart, usually passing through vessels in the groin or arm. This study is done by a trained cardiologist. A Doppler echocardiogram (a non-invasive test to estimate pulmonary artery pressures that is functionally an ultrasound of your heart and lung vessels) is then conducted and used to identify patients who are at risk for having pulmonary hypertension.
Sildenafil is used to treat pulmonary hypertension in the non-thalassemic population. Is it used to treat other conditions as well? Are there any typical side effects that are currently thought to be associated with its use (in the non-thalassemic population)? Why can’t we just assume that sildenafil will be as safe for people with thalassemia as it is for other patients?
Sildenafil is one of over 10 medications that is FDA-approved to treat pulmonary hypertension. Although sildenafil is effective in treating pulmonary hypertension, it has not specifically been studied in patients with thalassemia. Thalassemia patients are different from patients with other forms of pulmonary hypertension (and thalassemia major is different from thalassemia intermedia), and these differences may affect the way they respond to certain medications. This is why studies determining the best way to treat pulmonary hypertension in patients with thalassemia are needed. (Since sildenafil does not at this point have a label indication for use in thalassemia, an organized clinical trial can provide a good, safe setting for a thalassemia patient to try sildenafil as a possible treatment option for pulmonary hypertension. - Ed.)
Also known as Viagra, sildenafil has gotten its reputation as a successful treatment for erectile dysfunction in addition to its role as a therapy for pulmonary hypertension. It is also used to treat high altitude sickness.
As with any medication, there are several side-effects that can occur with sildenafil use, although it is generally considered safe and well-tolerated. In clinical trials (which were not focused on the thalassemia population), the most common side effects included headache, flushing, dyspepsia (indigestion), nasal congestion and impaired vision, including photophobia (light sensitivity) and blurred vision. Rare cases of vision loss have been reported. Other rare but serious side effects include severe hypotension (abnormally low blood pressure), heart attack, stroke, heart arrhythmia and sudden hearing loss. It should not be taken with other nitric oxide donating medications (organic nitrites and nitrates, such as nitroglycerine, sodium nitroprusside, amyl nitrite).
Sildenafil is an oral medication. How is it ingested - as a pill or as a solution?
Sildenafil comes in both a pill and liquid form.
What are the reasons that a person with thalassemia might want to enroll a study for pulmonary hypertension?
There are several reasons why a patient might be interested in participating in clinical trials. Research is very important in order to advance science, contribute to the greater good, and improve medical insight into diseases like thalassemia in order to improve therapies in the future. In particular, if a patient has pulmonary hypertension, it would be of benefit to the patient to have the condition studied further.
Ongoing studies utilize several procedures as part of the study to help determine the most significant contributing factors causing pulmonary hypertension. Pulmonary hypertension is associated with a number of risk factors. It is likely the result of a combination of factors, including coagulation issues, iron overload and the long-term consequences of hemolysis.
Clinical trials help guide future therapy for patients with thalassemia dealing with pulmonary hypertension. It is possible that sildenafil or other FDA approved studies may help improve pulmonary hypertension, although we do not yet know if this therapy will work in patients with thalassemia. Control arms are often included in studies in order to determine the differences between patients who develop a complication like pulmonary hypertension from those who do not.
Researchers hope that this information gained from clinical trials will lead to improved therapies for patients with thalassemia in the future. Participation in clinical trials will insure that progress is made in both our understanding of this complication, and the best alternatives for treatment.
If you or someone you know has thalassemia and pulmonary hypertension, even if they are not interested in participation in a clinical trial, it is important that they see a cardiopulmonary specialist for further evaluation. Although guidelines for the treatment of pulmonary hypertension in thalassemia do not yet exist, specialists in pulmonary hypertension can help provide you with the best options to address this condition.
One pulmonary hypertension study currently under way is a multi-center trial run through the Thalassemia Clinical Research Network (TCRN) evaluating the safety and efficacy of sildenafil for pulmonary hypertension in Thalassemia. In addition to taking sildenafil 3 times a day, patients with pulmonary hypertension will undergo a series of tests during weeks 1, 2, 4, 8 and 12. Can you explain what is involved in these tests? Can all be completed on one day of each visit? Can you estimate the amount of time involved for the tests? And are there any special requirements (e.g., fasting, etc.) required by the tests?
The TCRN sildenafil study, is currently enrolling patients. The main goal of the sildenafil trial is to determine whether sildenafil improves exercise tolerance and walking distance in patients with an abnormal Doppler echo suggesting pulmonary hypertension.
Since you asked about the sildenafil trial, a summary of the procedures follows:
There are many procedures and blood tests that will be done as part of the sildenafil study. It can take 1-2 days to complete all the tests for baseline and final evaluations, while the 2 week evaluation will take several hours. No fasting is required for these tests. The tests and procedures are commonly performed as part of the clinical work-up for pulmonary hypertension.
Tests and Procedures:
• Medical history, review of symptoms and physical exam (performed at every visit)
• 6 minute walk test (performed at every visit): Involves walking around a predetermined path at a comfortable pace for 6 minutes to the distance walked in 6 minutes, which reflects exercise capacity.
• Doppler echocardiograph (week 0 and 12): Noninvasive ultrasound of heart and lung vessels
• Pulmonary Function Tests (week 0 and 12)
• Cardiac MRI (week 0 and 12)
• Chest CT (week 0)
• Blood tests (performed at every visit): Up to 2 tablespoons of blood will be drawn for multiple analyses
• Pregnancy test (in females, performed at every visit)
Another study focusing on pulmonary hypertension and thalassemia evaluates the safety and efficacy of a nutritional supplement called glutamine. It is an 8 week open-label study in patients with thalassemia and echocardiogram evidence of pulmonary hypertension, and involves study visits every 2 weeks, a blood draw and exercise tolerance test (6 minute walk test) at each visit, pulmonary function tests and a Doppler echo pre and post therapy.
The goal of this study is to determine if glutamine therapy replenishes the glutamine deficiency that occurs in the red blood cells of patients with pulmonary hypertension. This is a single center trial enrolling patients at Children’s Hospital & Research Center Oakland. More information on both studies and others targeting thalassemia can be found on
http://clinicaltrials.gov;
or specifically forthe sildenafil trial:
http://clinicaltrials.gov/ct2/show/NCT00872170?term=sildenafil+for+thalassemia&rank=1
and for the glutamine trial:
http://clinicaltrials.gov/ct2/results?term=glutamine+for+pulmonary+hypertension
I’m a little confused concerning what patients without pulmonary hypertension will be required to do in the TCRN sildenafil trial.
The listing states that the control group will attend one to three study visits at baseline; does that mean they will have all the same tests as the pulmonary hypertension group (plus lung function test, chest MRI, CAT, exhaled NO test), but that they might be spread out over two or three visits, rather than all performed at the same visit? And that they will not need to repeat the tests?
The baseline tests performed in patients with pulmonary hypertension will also be performed on control patients without pulmonary hypertension. If planned carefully these tests can all be done in one very busy day. Often it is spread over 2 days given scheduling challenges and the time it takes to have a Chest CT, heart MRI, Doppler echocardiogram, blood draw and 6 minute walk test preformed.
If a person wishes to participate, at what centers is the study being conducted? Who should s/he contact to learn more? Is there any funding available for people who might have transportation/location obstacles?
This is an NIH, NHLBI sponsored study run through the Thalassemia Clinical Research Network. Participating sites are in Boston, MA, New York City, NY, Philadelphia, PA Dallas, TX, Oakland, CA, and Toronto, Canada. Our London, UK and Beirut, Lebanon sites will hopefully be enrolling soon. Please contact Lisa Virzi, the Project Director, for information on the site nearest you, and possible availability of funding for travel if interested in participation.
Lisa Virzi
Project Director/TCRN Network Manager
New England Research Institutes
9 Galen Street
Watertown, MA 02472
Tel: 617- 923-7747 x258
email: lvirzi@neriscience.comThis e-mail address is being protected from spambots. You need JavaScript enabled to view it
Again, more information on these and other studies relevant to thalassemia can be found on clinicaltrials.gov.
I know this is hard to predict, but can you give a general idea of what would happen AFTER the TCRN study is completed, in a best case scenario?
This is a small pilot study. We are hoping to generate data that will lead to larger trials and guide future therapy for pulmonary hypertension in thalassemia. The results of this study will also provide new insight into the causes of pulmonary hypertension in patients with thalassemia. This information is vital in order to design specific therapies that target these specific mechanisms of disease. Best case scenario, this is the first step to better treatment options for patients with pulmonary hypertension and thalassemia.
4/18/10
විවාහයේදී ගැළපිය යුතු අලුත් ම පොරොන්දම-තැලසීමියා
විවාහයේදී ගැළපිය යුතු අලුත් ම පොරොන්දම-තැලසීමියා
http://www.silumina.lk/2009/12/06/_art.asp?fn=av09120621
තැලසීමියා රෝගය පිළිබඳව මේ දිනවල වැඩියෙන් කතා බහට ලක් වෙනවා. ඒ, තැලසීමියා සහතිකය නොමැතිව තරුණ යුවළකට විවාහවීමට නොහැකි වන ලෙස පනතක් ඉදිරියේදී පාර්ලිමේන්තුවට ගෙන ඒමට සූදානම් වන නිසයි.
වයඹ සහ මධ්යම පළාත තුළදී මේ වනවිට තැලසීමියා රෝගීන් බහුල ලෙස හමු වුවත් ලංකාව පුරාම තැලසීමියා රෝගීන් සහ රෝග වාහකයින් සිටින බව නවතම පර්යේෂණ මගින් පෙනී යනවා. අද සුවමඟ වෙන්වන්නේ තැලසීමියා රෝගයේ ස්වභාවය සහ එයින් මිදීමේ ක්රමය සහ තැලසීමියා රෝගයෙන් මිදීමේ ඇති වැදගත්කම පැහැදිලි කිරීමටයි.
තැලසීමියාව යනු කුමන අන්දමේ රෝගයක්ද?
තැලසීමියාව යනු අපගේ රුධිරයට වැළදෙන රෝගයක්. ඒ නිසා අපගේ රුධිරය පිළිබඳව යම් දැනුමක් ලබා ගැනීම, තැලසීමියා රෝගයේ ස්වභාවය තේරුම් ගැනීමට පහසුවෙනවා. නිරෝගී වැඩිහිටි පුද්ගලයකුගේ ශරීරය තුළ රුධිරය ලීටර් 5 ක් (5L) පමණ තිබෙනවා. රුධිරය එක් මිලිලීටරයක (1 mL) රතු රුධිරානු මිලියන 5 ක (5 million) පමණ තිබෙනවා. රතු රුධිරානු ඉතාම කුඩයි.
එයට තිබෙන්නේ ද්වි අවතල හැඩයක්. ඒ නිසා රතු රුධිරානුවලට නැවෙමින් හැකිළෙමින් කුඩා රුධිර නාලිකා ඔස්සේ ගමන් කළ හැකියි. අපගේ රුධිරය තරලයක්. ඒ තරලය තුළ රතු රුධිරානු සුදු රුධිරානු රුධිර පට්ටිකා ආදිය තිබෙනවා. පෙනහලු වලින් ලබාගන්නා ඔක්සිජන් ශරීරය පුරා ගෙන යන්නේ රතු රුධිරානු ඇතුළත තිබෙන හිමොග්ලොබින් නම් අණුවලින්.
අප ජීවත් වන්නේ වර්ධනය වන්නේ වැඩ කරන්නේ ඔක්සිජන් නිසයි. එමෙන් ම ශරීරයේ පටකවල එක්රැස්වන කාබන්ඩයොක්සයිඩ් වායුව පෙනහළුවලින් පිට කිරීමට උපකාරී වන්නේ රතු රුධිරානු. ඉහතින් දැක්වූ රතු රුධිරානු සෛල තුළ තිබෙන හීමොග්ලොබින් අණු නිර්මාණය වී තිබෙන්නේ හීම් (Heam) සහ ග්ලෝබින් (globin) නම් කොටස් එකට එක්වීමෙන්.
හීම් නම් කොටස තුළ යකඩ අඩංගුයි. ග්ලෝබින් කොටස නිර්මාණය වී තිබෙන්නේ ඇල්ෆා ප්රෝටීන් දාම සහ බීටා ප්රේරීටීන් දාම එක් වීමෙන්. හිමොග්ලොබින් අණුවේ ග්ලෝබින් කොටසේ ඇති මෙම ඇල්ෆා සහ බීටා ප්රෝටීන් දාම නිපදවෙන්නේ නැතිනම්, රුධිර සෛලවල ස්ථාවර බව නැතිවී යනවා. රුධිර සෛල දිය වන්නට පටන් ගන්නවා.
තැලසීමියාව රෝගයේ දී සිදුවන්නේ මෙම සිදුවීමයි. හිමොග්ලොබින් අණු තුළ ඇල්ෆා දාම නැතිනම් එම තත්ත්වය ඇල්ෆා තැලසීමියාව ලෙසත් බීටා දාම නැතිනම් එය බීටා තැලසිමියාව ලෙසත් හඳුන්වනවා. ඉතා සරලව හඳුන්වන්නේ නම් තැලසීමියා රෝගයේදී සිදුවන්නේ රුධිරය දියවීමයි. තැලසීමියා රෝගයේ රෝග ලක්ෂණ ළමයකු ඉපදී වසර කීපයක් ගතවන විට මතුවෙනවා.
තැලසීමියාවට ගොදුරු වූ දරුවකුගේ ශරීරයේ රුධිරය දියවීම නිසා ළමයා සුදු මැලිවෙනවා. වර්ධනය ඇන හිටිනවා, ක්රියාකාරිත්වය අඩු වෙනවා. රුධිරය දියවෙමින් යනවිට හෘදයේ ක්රියාකාරිත්වය පවත්වාගෙන යාමට අපහසුවෙනවා. මේ සඳහා කළ හැකි එකම ප්රතිකාරය වන්නේ බාහිරින් රුධිරය ලබාදීමයි. එහෙත් දිගින් දිගටම රුධිරය දියවෙමින් යනවිට අක්මාව, ප්ලීහාව වැනි ඉන්ද්රියයන්ට හානිවීමට පටන්ගන්නවා.
ඊට අමතරව ඇට මිදුළු විස්ථාරණය වීම නිසා මුහුණ විකෘති ස්වභාවයක් ගන්නවා. එසේම ඇට කටු දුර්වල වී ඒවා කැඩීමට පටන් ගන්නවා. වර්ධනය අඩාලවීම නිසා මිටි වෙනවා. දිගින් දිගටම රුධිරය ලබාදීමෙන් මෙම ප්රශ්න බොහොමයක් විසඳා ගත හැකි ය. සාමාන්යයෙන් මසකට වරක් රුධිරය ලබාදිය යුතුයි. එය ජීවිත කාලය පුරාම කළ යුතුයි.
එහෙත් දිගින් දිගටම රුධිරය පිටතින් ලබාදෙන විට ගැටලු මතු වෙනවා. ඒ රුධිරය ලබාදෙන්න, ලබාදෙන්න ශරීරයේ යකඩ තැන්පත් වීමයි. මළ, මූත්ර, දහදිය මගින් පහසුවෙන් යකඩ අපගේ ශරීරයෙන් ඉවත් වන්නේ නෑ. යකඩ අණු අපගේ ශරීරයට විස සහිතයි. ශරීරයේ වැඩිපුර ඇති යකඩ නිසා ශරීරයේ තිබෙන ප්රෝටීනවල ස්වභාවය වෙනස් වෙනවා.
DNA අණු වෙනස් වෙනවා. එසේ ම ශරීරයේ යකඩ එක් රැස්වීම හෘදයට, අග්න්යාසයට පිටියුටරි ග්රන්ථයට වෙනත්් හෝමෝන ග්රන්ථිවලට මෙන් ම සෑම අවයවයකටම බලපෑම් ඇති කරනවා. විවිධ ආබාධ ඇතිවීමට ජීවිත කාලය කෙටි වීමට එම බලපෑම් හේතු වෙනවා. මෙම තත්ත්වයෙන් මිදීමට ශරීරයේ යකඩ ඉවත් කළ යුතුයි.
යකඩ ඉවත් කිරීමට මේ වනවිට ප්රතිකාර ක්රම 3 ක් භාවිතා කරනවා. දිනපතාම දෙනු ලබන එන්නත්, දිනපතා තුන් වරක් ගත යුතු ගිලින පෙති මෙහිදී යොදාගන්නවා. දිනකට එක් වරක් දියකර ගත යුතු පෙත්තක් ශරීරයෙන් යකඩ ඉවත් කිරීමේ නවතම ඖෂධය ලෙස හඳුන්වා දී තිබෙනවා.
මේ ප්රතිකාර සඳහා රෝගයකු වෙනුවෙන් වසරකට රුපියල් ලක්ෂ 2 ක් පමණ වැය කිරීමට රජයට සිදුවී තිබෙනවා. මේ වසර වනවිට දිනපතා මෙලෙස ප්රතිකාර ලබාදෙන රෝගීන් 1600 ක් පමණ ශ්රී ලංකාව පුරා සිටිනවා.
1. රෝස පත ඇති තරුණියක් හා රෝස පත ඇති තරුණයෙකු අතර විවාහය අශුභයි.
2. හරිත පත ඇති තරුණිය හා රෝස පත ඇති තරුණයා අතර විවාහය ශුභයි.
3. රෝස පත ඇති තරුණයා හා පරීක්ෂා නොකළ තරුණිය අතර විවාහය අශුභයි.
4. හරිත පත ඇති තරුණයා හා රෝස පත ඇති තරුණිය අතර විවාහය ශුභයි.
5. දෙදෙනාටම හරිත පත ඇති විට එම විවාහය ශුභයි.
6. හරිත පත ඇති තරුණයා හා පරීක්ෂා නොකළ තරුණිය අතර විවාහය ශුභයි.
7. රෝස පත ඇති තරුණිය හා පරීක්ෂා නොකළ තරුණයා අතර විවාහය අශුභයි.
8. හරිත පත ඇති තරුණිය හා පරීක්ෂා නොකළ තරුණයා අතර විවාහය ශුභයි.
9. පරීක්ෂා නොකළ දෙදෙනෙකු අතර විවාහය අශුභයි.
එසේම වසරකට රෝගීන් අසූවක් (80) පමණ අලුතෙන් හඳුනා ගන්නවා. දැනට ලංකාව තුළ සෞඛ්ය ක්ෂේත්රය සඳහා දරනු ලබන වියදමෙන් 5% ක් පමණ වැය වන්නේ තැලසීමියා රෝගීන් වෙනුවෙන්. රෝගීන් සංඛ්යාව වැඩිවුවහොත් විශාල වියදමක් දැරීමට රජයට සිදුවෙනවා.
මෙම රෝගයට ගොදුරුවූවන්ගේ ජීවිත කාලය කෙටි නිසාත් ඔවුන් වෙනුවෙන් විශාල මුදලක් වැය කළ යුතු නිසාත් මෙම රෝගයට ගොදුරු වීම වළක්වා ගැනීම ඉතාම වැදගත්.
තැලසීමියාව රෝගයට ගොදුරු නොවී සිටීම ඉතාම පහසුයි. එය කළ හැකි ඉතා ප්රායෝගික කාර්යයක්.
තැලසීමියා වැළඳීමට හේතුව?
තැලසීමියා රෝගයට හේතුවන්නේ විෂ බීජයක් නොවෙයි. ඇතැමුන් මැලේරියාව නිසා තැලසීමියාව වැළදෙන බව පවසනවා. එය වැරදි මතයක්. තැලසීමියාව වැළඳීමට හේතු තිබෙන්නේ එකක් පමණයි. ඒ තැලසීමියා වාහකයින් දෙදෙනෙක් අතර සිදුවන විවාහයක්. විවාහ වූ කාන්තාව සහ පිරිමියා යන දෙදෙනාම තැලසීමියා වාහකයින් නම් ඔවුන්ට ඉපදෙන දරුවන් තැලසීමියා රෝගීන් බවට පත් විය හැකියි.
අප ඉහතින් දැක්වූ රුධිරයේ හීිමොග්ලොබින් වල තිබෙන ඇල්ෆා සහ බීටා ප්රේරීටීනවල ගති ලක්ෂණ යමෙකුට ලැබෙන්නේ එම පුද්ගලයාගේ මවගෙන් සහ පියාගෙන්. යම් දරුවකු උපදිනවිට එම දරුවාට පියාගෙන් විකෘති නොවූ හොඳ ජානයක් ලැබී මවගෙන් විකෘති වූ ජානයක් ලැබුණහොත් එම දරුවාට තැලසීමියා රෝගය වැළදෙන්නේ නැහැ.
එමෙන්ම මවගෙන් ලැබුණු ජාන විකෘති ජාන නොවී පියාගෙන් ලැබුණු ජාන විකෘති වුවත් දරුවා තැලසීමියා රෝගියකු වන්නේ නැහැ. එහෙත් එවැනි දරුවකුගේ රුධිරයේ විකෘති ජානයක් තිබෙනවා. එම දරුවාට රෝගය වැළදෙන්නේ නැත්තේ මවගෙන් හෝ පියාගෙන් ලැබුණු එක් හොඳ ජානයක් තිබෙන නිසයි.
පේරාදෙණිය මහ රෝහලේ
ළමා රෝග විශේෂඥ වෛද්ය
ජ්යෙෂ්ඨ කථිකාචාර්ය
රස්නායක එම්. මුදියන්සේ
එහෙත් එම දරුවා රෝග වාහකයෙක්. වාහකයකුගේ කිසිදු රෝග ලක්ෂණයක් ඇත්තේ නැහැ. රෝග වාහකයින් වුවත් ඉතා සාර්ථකව ජීවිතය ගෙවන විශේෂඥ වෛද්යවරු, ජනපි්රය නළු, නිළියන්, දේශපාලනඥයින්, හමුදා නිලධාරීන් පවා ශ්රී ලංකාවේ සිටිනවා.
තැලසීමියා රෝග වාහකයින් ලංකාව පුරා ලක්ෂ 5 ක් පමණ සිටිනවා. මෙම රෝග වාහකයින්ගේත් ඔවුන්ට ඉපදෙන දරුවන්ගේත් සුබසිද්ධිය සඳහා විශේෂ වැඩපිළිවෙළක් දැන් ලංකාව පුරා ක්රියාත්මක වෙනවා. ඒ විශේෂයෙන් ම තැලසීමියා වාහකයින් වූ පුද්ගලයින්ගේ දරුවන් තැලසීමියා රෝගීන්වීම වැළැක්වීම සඳහායි.
තැලසීමියා රෝගය පැතිරීම වැළැක්වීමට ගතයුතු එකම පියවර වන්නේ රෝග වාහකයින් දෙදෙනකුගේ විවාහය වැළැක්වීමයි. ඕනෑම අයකුට තමා තැලසීමියා වාහකයකු ද යන්න ඉතා සරල රුධිර පරීක්ෂාවකින් දැනගත හැකි යි. Full Blood count - FBC රුධිර පරීක්ෂාවක් කළ විට එහි MCV අගය 80 ට වඩා අඩු නම් හෝ MCH අගය 27 ට වඩා අඩු නම් එයට හේතු වන කාරණා 2 ක් තිබෙනවා. ඉන් එක කරුණක් වන්නේ යකඩ ඌණතාවයයි. අනෙක් කරුණ වන්නේ තැලසීමියා වාහක තත්ත්වයයි.
මූලික රුධිර පරීක්ෂණයේදී MCV අගය 80 ට වඩා අඩු නැති නම් MCH අගය 27 ට වඩා අඩු නැතිනම් ඔහු හෝ ඇය තැලසීමියා වාහකයකු නොවන බවත් යකඩ ඌණතාවයක් නොමැති බවත් පැහැදිලි වෙනවා. එවිට එම පුද්ගලයාට කොළ පැහැති කාඩ්පතක් (හරිත පතක්) නිකුත් කරනවා. යමෙකුග MCV සහ MCH අගයන් අවශ්ය අගයට වඩා අඩු නම්, එම පුද්ගලයාට මාස තුනක් පමණ යකඩ ප්රතිකාර ලබාදෙනවා.
ඉන් අනතුරුව කරනු ලබන පරීක්ෂණයේදී MCV සහ MCH අගයන් අවශ්ය පමණට ඇත්නම් එම පුද්ගලයාට ද කොළ පැහැති කාඩ් පතක් නිකුත් කරනවා. MCV සහ MCH අගය නියම ප්රමාණයෙන් නොමැති පුද්ගලයන් සඳහා කරන HPLC පරීක්ෂාව මගින් නිවැරදි ලෙසම එම පුද්ගලයා තැලසීමියා වාහකයෙක් යන්න හඳුනාගත හැකියි. එහිදී එම පුද්ගලයා සත්ය ලෙසම තැලසීමියා වාහකයෙක් බව ඔප්පු වුවහොත් ඔහුට රෝස පැහැති කාඩ්පතක් නිකුත් කරනවා.
මෙහි දක්වා ඇති තැලසීමියා පොරොන්දමට අනුව විවාහ වූවොත් එම යුවළට තැලසීමියා රෝගයෙන් තොර දරුවකු ලබාගත හැකි යි. තැලසීමියා රෝගයට ගොදුරු නොවී සිටීම අපේ වගකීමක්.
එසේම තරුණ වයසේ සිටින දරුවන් ගේ රුධිරය පරීක්ෂා කර තම දරුවා තැලසීමියා වාහකයකුද කියා දැනගැනීම දෙමාපියන්ගේ වගකීමක්. තැලසීමියා රෝගය නැති දරුවන් ලබාගැනීමට තමන් විවාහ විය යුත්තේ කුමන අන්දමේ පුද්ගලයකු සමඟ ද යන්න සොයා ගැනීමට තැලසීමියා පොරොන්දම උපකාරී වෙනවා.
ස්තූතිය - සෞඛ්ය අධ්යාපන කාර්යාංශයේ බුද්ධදාස ජයවර්ධන මහතාට.
http://www.silumina.lk/2009/12/06/_art.asp?fn=av09120621
තැලසීමියා රෝගය පිළිබඳව මේ දිනවල වැඩියෙන් කතා බහට ලක් වෙනවා. ඒ, තැලසීමියා සහතිකය නොමැතිව තරුණ යුවළකට විවාහවීමට නොහැකි වන ලෙස පනතක් ඉදිරියේදී පාර්ලිමේන්තුවට ගෙන ඒමට සූදානම් වන නිසයි.
වයඹ සහ මධ්යම පළාත තුළදී මේ වනවිට තැලසීමියා රෝගීන් බහුල ලෙස හමු වුවත් ලංකාව පුරාම තැලසීමියා රෝගීන් සහ රෝග වාහකයින් සිටින බව නවතම පර්යේෂණ මගින් පෙනී යනවා. අද සුවමඟ වෙන්වන්නේ තැලසීමියා රෝගයේ ස්වභාවය සහ එයින් මිදීමේ ක්රමය සහ තැලසීමියා රෝගයෙන් මිදීමේ ඇති වැදගත්කම පැහැදිලි කිරීමටයි.
තැලසීමියාව යනු කුමන අන්දමේ රෝගයක්ද?
තැලසීමියාව යනු අපගේ රුධිරයට වැළදෙන රෝගයක්. ඒ නිසා අපගේ රුධිරය පිළිබඳව යම් දැනුමක් ලබා ගැනීම, තැලසීමියා රෝගයේ ස්වභාවය තේරුම් ගැනීමට පහසුවෙනවා. නිරෝගී වැඩිහිටි පුද්ගලයකුගේ ශරීරය තුළ රුධිරය ලීටර් 5 ක් (5L) පමණ තිබෙනවා. රුධිරය එක් මිලිලීටරයක (1 mL) රතු රුධිරානු මිලියන 5 ක (5 million) පමණ තිබෙනවා. රතු රුධිරානු ඉතාම කුඩයි.
එයට තිබෙන්නේ ද්වි අවතල හැඩයක්. ඒ නිසා රතු රුධිරානුවලට නැවෙමින් හැකිළෙමින් කුඩා රුධිර නාලිකා ඔස්සේ ගමන් කළ හැකියි. අපගේ රුධිරය තරලයක්. ඒ තරලය තුළ රතු රුධිරානු සුදු රුධිරානු රුධිර පට්ටිකා ආදිය තිබෙනවා. පෙනහලු වලින් ලබාගන්නා ඔක්සිජන් ශරීරය පුරා ගෙන යන්නේ රතු රුධිරානු ඇතුළත තිබෙන හිමොග්ලොබින් නම් අණුවලින්.
අප ජීවත් වන්නේ වර්ධනය වන්නේ වැඩ කරන්නේ ඔක්සිජන් නිසයි. එමෙන් ම ශරීරයේ පටකවල එක්රැස්වන කාබන්ඩයොක්සයිඩ් වායුව පෙනහළුවලින් පිට කිරීමට උපකාරී වන්නේ රතු රුධිරානු. ඉහතින් දැක්වූ රතු රුධිරානු සෛල තුළ තිබෙන හීමොග්ලොබින් අණු නිර්මාණය වී තිබෙන්නේ හීම් (Heam) සහ ග්ලෝබින් (globin) නම් කොටස් එකට එක්වීමෙන්.
හීම් නම් කොටස තුළ යකඩ අඩංගුයි. ග්ලෝබින් කොටස නිර්මාණය වී තිබෙන්නේ ඇල්ෆා ප්රෝටීන් දාම සහ බීටා ප්රේරීටීන් දාම එක් වීමෙන්. හිමොග්ලොබින් අණුවේ ග්ලෝබින් කොටසේ ඇති මෙම ඇල්ෆා සහ බීටා ප්රෝටීන් දාම නිපදවෙන්නේ නැතිනම්, රුධිර සෛලවල ස්ථාවර බව නැතිවී යනවා. රුධිර සෛල දිය වන්නට පටන් ගන්නවා.
තැලසීමියාව රෝගයේ දී සිදුවන්නේ මෙම සිදුවීමයි. හිමොග්ලොබින් අණු තුළ ඇල්ෆා දාම නැතිනම් එම තත්ත්වය ඇල්ෆා තැලසීමියාව ලෙසත් බීටා දාම නැතිනම් එය බීටා තැලසිමියාව ලෙසත් හඳුන්වනවා. ඉතා සරලව හඳුන්වන්නේ නම් තැලසීමියා රෝගයේදී සිදුවන්නේ රුධිරය දියවීමයි. තැලසීමියා රෝගයේ රෝග ලක්ෂණ ළමයකු ඉපදී වසර කීපයක් ගතවන විට මතුවෙනවා.
තැලසීමියාවට ගොදුරු වූ දරුවකුගේ ශරීරයේ රුධිරය දියවීම නිසා ළමයා සුදු මැලිවෙනවා. වර්ධනය ඇන හිටිනවා, ක්රියාකාරිත්වය අඩු වෙනවා. රුධිරය දියවෙමින් යනවිට හෘදයේ ක්රියාකාරිත්වය පවත්වාගෙන යාමට අපහසුවෙනවා. මේ සඳහා කළ හැකි එකම ප්රතිකාරය වන්නේ බාහිරින් රුධිරය ලබාදීමයි. එහෙත් දිගින් දිගටම රුධිරය දියවෙමින් යනවිට අක්මාව, ප්ලීහාව වැනි ඉන්ද්රියයන්ට හානිවීමට පටන්ගන්නවා.
ඊට අමතරව ඇට මිදුළු විස්ථාරණය වීම නිසා මුහුණ විකෘති ස්වභාවයක් ගන්නවා. එසේම ඇට කටු දුර්වල වී ඒවා කැඩීමට පටන් ගන්නවා. වර්ධනය අඩාලවීම නිසා මිටි වෙනවා. දිගින් දිගටම රුධිරය ලබාදීමෙන් මෙම ප්රශ්න බොහොමයක් විසඳා ගත හැකි ය. සාමාන්යයෙන් මසකට වරක් රුධිරය ලබාදිය යුතුයි. එය ජීවිත කාලය පුරාම කළ යුතුයි.
එහෙත් දිගින් දිගටම රුධිරය පිටතින් ලබාදෙන විට ගැටලු මතු වෙනවා. ඒ රුධිරය ලබාදෙන්න, ලබාදෙන්න ශරීරයේ යකඩ තැන්පත් වීමයි. මළ, මූත්ර, දහදිය මගින් පහසුවෙන් යකඩ අපගේ ශරීරයෙන් ඉවත් වන්නේ නෑ. යකඩ අණු අපගේ ශරීරයට විස සහිතයි. ශරීරයේ වැඩිපුර ඇති යකඩ නිසා ශරීරයේ තිබෙන ප්රෝටීනවල ස්වභාවය වෙනස් වෙනවා.
DNA අණු වෙනස් වෙනවා. එසේ ම ශරීරයේ යකඩ එක් රැස්වීම හෘදයට, අග්න්යාසයට පිටියුටරි ග්රන්ථයට වෙනත්් හෝමෝන ග්රන්ථිවලට මෙන් ම සෑම අවයවයකටම බලපෑම් ඇති කරනවා. විවිධ ආබාධ ඇතිවීමට ජීවිත කාලය කෙටි වීමට එම බලපෑම් හේතු වෙනවා. මෙම තත්ත්වයෙන් මිදීමට ශරීරයේ යකඩ ඉවත් කළ යුතුයි.
යකඩ ඉවත් කිරීමට මේ වනවිට ප්රතිකාර ක්රම 3 ක් භාවිතා කරනවා. දිනපතාම දෙනු ලබන එන්නත්, දිනපතා තුන් වරක් ගත යුතු ගිලින පෙති මෙහිදී යොදාගන්නවා. දිනකට එක් වරක් දියකර ගත යුතු පෙත්තක් ශරීරයෙන් යකඩ ඉවත් කිරීමේ නවතම ඖෂධය ලෙස හඳුන්වා දී තිබෙනවා.
මේ ප්රතිකාර සඳහා රෝගයකු වෙනුවෙන් වසරකට රුපියල් ලක්ෂ 2 ක් පමණ වැය කිරීමට රජයට සිදුවී තිබෙනවා. මේ වසර වනවිට දිනපතා මෙලෙස ප්රතිකාර ලබාදෙන රෝගීන් 1600 ක් පමණ ශ්රී ලංකාව පුරා සිටිනවා.
1. රෝස පත ඇති තරුණියක් හා රෝස පත ඇති තරුණයෙකු අතර විවාහය අශුභයි.
2. හරිත පත ඇති තරුණිය හා රෝස පත ඇති තරුණයා අතර විවාහය ශුභයි.
3. රෝස පත ඇති තරුණයා හා පරීක්ෂා නොකළ තරුණිය අතර විවාහය අශුභයි.
4. හරිත පත ඇති තරුණයා හා රෝස පත ඇති තරුණිය අතර විවාහය ශුභයි.
5. දෙදෙනාටම හරිත පත ඇති විට එම විවාහය ශුභයි.
6. හරිත පත ඇති තරුණයා හා පරීක්ෂා නොකළ තරුණිය අතර විවාහය ශුභයි.
7. රෝස පත ඇති තරුණිය හා පරීක්ෂා නොකළ තරුණයා අතර විවාහය අශුභයි.
8. හරිත පත ඇති තරුණිය හා පරීක්ෂා නොකළ තරුණයා අතර විවාහය ශුභයි.
9. පරීක්ෂා නොකළ දෙදෙනෙකු අතර විවාහය අශුභයි.
එසේම වසරකට රෝගීන් අසූවක් (80) පමණ අලුතෙන් හඳුනා ගන්නවා. දැනට ලංකාව තුළ සෞඛ්ය ක්ෂේත්රය සඳහා දරනු ලබන වියදමෙන් 5% ක් පමණ වැය වන්නේ තැලසීමියා රෝගීන් වෙනුවෙන්. රෝගීන් සංඛ්යාව වැඩිවුවහොත් විශාල වියදමක් දැරීමට රජයට සිදුවෙනවා.
මෙම රෝගයට ගොදුරුවූවන්ගේ ජීවිත කාලය කෙටි නිසාත් ඔවුන් වෙනුවෙන් විශාල මුදලක් වැය කළ යුතු නිසාත් මෙම රෝගයට ගොදුරු වීම වළක්වා ගැනීම ඉතාම වැදගත්.
තැලසීමියාව රෝගයට ගොදුරු නොවී සිටීම ඉතාම පහසුයි. එය කළ හැකි ඉතා ප්රායෝගික කාර්යයක්.
තැලසීමියා වැළඳීමට හේතුව?
තැලසීමියා රෝගයට හේතුවන්නේ විෂ බීජයක් නොවෙයි. ඇතැමුන් මැලේරියාව නිසා තැලසීමියාව වැළදෙන බව පවසනවා. එය වැරදි මතයක්. තැලසීමියාව වැළඳීමට හේතු තිබෙන්නේ එකක් පමණයි. ඒ තැලසීමියා වාහකයින් දෙදෙනෙක් අතර සිදුවන විවාහයක්. විවාහ වූ කාන්තාව සහ පිරිමියා යන දෙදෙනාම තැලසීමියා වාහකයින් නම් ඔවුන්ට ඉපදෙන දරුවන් තැලසීමියා රෝගීන් බවට පත් විය හැකියි.
අප ඉහතින් දැක්වූ රුධිරයේ හීිමොග්ලොබින් වල තිබෙන ඇල්ෆා සහ බීටා ප්රේරීටීනවල ගති ලක්ෂණ යමෙකුට ලැබෙන්නේ එම පුද්ගලයාගේ මවගෙන් සහ පියාගෙන්. යම් දරුවකු උපදිනවිට එම දරුවාට පියාගෙන් විකෘති නොවූ හොඳ ජානයක් ලැබී මවගෙන් විකෘති වූ ජානයක් ලැබුණහොත් එම දරුවාට තැලසීමියා රෝගය වැළදෙන්නේ නැහැ.
එමෙන්ම මවගෙන් ලැබුණු ජාන විකෘති ජාන නොවී පියාගෙන් ලැබුණු ජාන විකෘති වුවත් දරුවා තැලසීමියා රෝගියකු වන්නේ නැහැ. එහෙත් එවැනි දරුවකුගේ රුධිරයේ විකෘති ජානයක් තිබෙනවා. එම දරුවාට රෝගය වැළදෙන්නේ නැත්තේ මවගෙන් හෝ පියාගෙන් ලැබුණු එක් හොඳ ජානයක් තිබෙන නිසයි.
පේරාදෙණිය මහ රෝහලේ
ළමා රෝග විශේෂඥ වෛද්ය
ජ්යෙෂ්ඨ කථිකාචාර්ය
රස්නායක එම්. මුදියන්සේ
එහෙත් එම දරුවා රෝග වාහකයෙක්. වාහකයකුගේ කිසිදු රෝග ලක්ෂණයක් ඇත්තේ නැහැ. රෝග වාහකයින් වුවත් ඉතා සාර්ථකව ජීවිතය ගෙවන විශේෂඥ වෛද්යවරු, ජනපි්රය නළු, නිළියන්, දේශපාලනඥයින්, හමුදා නිලධාරීන් පවා ශ්රී ලංකාවේ සිටිනවා.
තැලසීමියා රෝග වාහකයින් ලංකාව පුරා ලක්ෂ 5 ක් පමණ සිටිනවා. මෙම රෝග වාහකයින්ගේත් ඔවුන්ට ඉපදෙන දරුවන්ගේත් සුබසිද්ධිය සඳහා විශේෂ වැඩපිළිවෙළක් දැන් ලංකාව පුරා ක්රියාත්මක වෙනවා. ඒ විශේෂයෙන් ම තැලසීමියා වාහකයින් වූ පුද්ගලයින්ගේ දරුවන් තැලසීමියා රෝගීන්වීම වැළැක්වීම සඳහායි.
තැලසීමියා රෝගය පැතිරීම වැළැක්වීමට ගතයුතු එකම පියවර වන්නේ රෝග වාහකයින් දෙදෙනකුගේ විවාහය වැළැක්වීමයි. ඕනෑම අයකුට තමා තැලසීමියා වාහකයකු ද යන්න ඉතා සරල රුධිර පරීක්ෂාවකින් දැනගත හැකි යි. Full Blood count - FBC රුධිර පරීක්ෂාවක් කළ විට එහි MCV අගය 80 ට වඩා අඩු නම් හෝ MCH අගය 27 ට වඩා අඩු නම් එයට හේතු වන කාරණා 2 ක් තිබෙනවා. ඉන් එක කරුණක් වන්නේ යකඩ ඌණතාවයයි. අනෙක් කරුණ වන්නේ තැලසීමියා වාහක තත්ත්වයයි.
මූලික රුධිර පරීක්ෂණයේදී MCV අගය 80 ට වඩා අඩු නැති නම් MCH අගය 27 ට වඩා අඩු නැතිනම් ඔහු හෝ ඇය තැලසීමියා වාහකයකු නොවන බවත් යකඩ ඌණතාවයක් නොමැති බවත් පැහැදිලි වෙනවා. එවිට එම පුද්ගලයාට කොළ පැහැති කාඩ්පතක් (හරිත පතක්) නිකුත් කරනවා. යමෙකුග MCV සහ MCH අගයන් අවශ්ය අගයට වඩා අඩු නම්, එම පුද්ගලයාට මාස තුනක් පමණ යකඩ ප්රතිකාර ලබාදෙනවා.
ඉන් අනතුරුව කරනු ලබන පරීක්ෂණයේදී MCV සහ MCH අගයන් අවශ්ය පමණට ඇත්නම් එම පුද්ගලයාට ද කොළ පැහැති කාඩ් පතක් නිකුත් කරනවා. MCV සහ MCH අගය නියම ප්රමාණයෙන් නොමැති පුද්ගලයන් සඳහා කරන HPLC පරීක්ෂාව මගින් නිවැරදි ලෙසම එම පුද්ගලයා තැලසීමියා වාහකයෙක් යන්න හඳුනාගත හැකියි. එහිදී එම පුද්ගලයා සත්ය ලෙසම තැලසීමියා වාහකයෙක් බව ඔප්පු වුවහොත් ඔහුට රෝස පැහැති කාඩ්පතක් නිකුත් කරනවා.
මෙහි දක්වා ඇති තැලසීමියා පොරොන්දමට අනුව විවාහ වූවොත් එම යුවළට තැලසීමියා රෝගයෙන් තොර දරුවකු ලබාගත හැකි යි. තැලසීමියා රෝගයට ගොදුරු නොවී සිටීම අපේ වගකීමක්.
එසේම තරුණ වයසේ සිටින දරුවන් ගේ රුධිරය පරීක්ෂා කර තම දරුවා තැලසීමියා වාහකයකුද කියා දැනගැනීම දෙමාපියන්ගේ වගකීමක්. තැලසීමියා රෝගය නැති දරුවන් ලබාගැනීමට තමන් විවාහ විය යුත්තේ කුමන අන්දමේ පුද්ගලයකු සමඟ ද යන්න සොයා ගැනීමට තැලසීමියා පොරොන්දම උපකාරී වෙනවා.
ස්තූතිය - සෞඛ්ය අධ්යාපන කාර්යාංශයේ බුද්ධදාස ජයවර්ධන මහතාට.
ගර්භණි සමයේදී තැලසීමියා රෝගය
ගර්භණි සමයේදී තැලසීමියා රෝගය
http://wedananasala.org
· තැලසීමියා රෝගය විවිධ ආකාරවලින් හමු වේ.
· මෙහිදී සිදු වනුයේ හිමොග්ලොබින් අණුවේ පෙප්ටයිඩ් අණු නිෂ්පාදනයේ ඇති වන දුබලතායි.
· සෞඛ්ය සම්පන්න වැඩිහිටියන්ගේ හිමොග්ලොබින්වල 95 % ක් පමණ ඇල්ෆා පෙප්ටයිඩ් දෙකකින් හා බීටා පෙප්ටයිඩ් දෙකකින්
සමන්විත හිමොග්ලොබින් වර්ගය හමු වේ.
· හිමොග්ලොබින් F යනු භ්රෑණයේ බහුලවම හමු වන හිමොග්ලොබින් වර්ගය වන අතර එය සමන්විත වනුයේ ඇල්ෆා පෙප්ටයිඩ්
දෙකකින් හා ගැමා පෙප්ටයිඩ් දෙකකිනි.
· එමෙන්ම සාමාන්ය වැඩිහිටියන්ගේ හිමොග්ලොබින් සුළු ප්රතිශතයක් ඇල්ෆා හා ඩෙල්ටා පෙස්ටයිඩ් දෙක බැගින් සමන්විත වු
හිමොග්ලොබින් A2 ලෙස හමු වේ.
· හිමොග්ලොබින් F හා හිමොග්ලොබින් A2 බහුලව හමු වේ නම් ඉන් අදහස් කරනුයේ සාමාන්ය හිමොග්ලොබින් A අණුවේ දෝෂ
පවතින බවකි.
· තැලසීමියා රෝගය ඇල්ෆා තැලසීමියා, බීටා තැලසීමියා ලෙස වර්ග දෙකකට බෙදා දැක්විය හැක.
· මෙම රෝගයේදී සිදු වනුයේ රක්තාණු නිපදවීම දෝෂ සහිත වීම, රක්තාණු විනාශ වීම හා රක්තහීනතා තත්වය මතු වීමයි.
· මෙම රෝගය ලොව පුරා හමු වන අතර අධිකව හමුවනුයේ මැලේරියා රෝගය වැඩි වශයෙන් ඇති ප්රදේශවලයි.
· ඊට හේතුව තැලසීමියා වාහකයන්ට මෙම රෝගයට එරෙහිව ක්රියා කළ හැකි බැවිනි. එනම් මධ්යධරණි ප්රදේශ, අප්රිකාණු රටවල් හා
ආසියානු රටවල්ය.
· ශ්රී ලංකාවේ කුණෑගල ප්රදේශය මෙම රෝගින් බහුලවම දක්නට ලැබේ.
· මෙම රෝගය ප්රවේණික රෝගයක් වන අතර නිලීන ජාන මගින් රෝගය ඇති වේ.
තැලසීමියා රෝගී මවක් ගැබ් ගැනීම.
· ඇල්ෆා තැලසීමියා වාහක මවකගේ භ්රෑණය ඇල්ෆා තැල්සීමියා රෝගී තත්වයෙන් පෙළේ නම් මවට ගර්භවිෂ රෝගය වැළදීමට වැඩි
අවදානමක් ඇත.
· තැලසීමියා රෝගී කාන්තාවන් දරුවන් ලැබීමට පෙර මිය යාම සාමාන්යයෙන් පෙර සිදු වුවද නුතන වෛද්ය විද්යාවේ දියුණුව නිසා
රෝගී කාන්තාවන් ගැබ් ගන්නා වයස තෙක් ජිවත් වීමේ හැකියාව ලබා ඇත.
· මෙම ගර්භණි මව්වරුන්ට නිරන්තරයෙන් රුධිර පාරවිලයනය කිරීමත් ඩෙස්ෆොරොක්සමයින් ඖෂධ ගර්භණි සමය පුරාම ලබා දිම
අවශ්ය වේ.
· බීටා තැලසීමියා රෝගයේ වාහක කාන්තාවන් සාමාන්යයෙන් රෝග ලක්ෂණ නොපෙන්වුවත් එහි වාහක තත්වය ගර්භණි සමයේදී
පෙන්නුම් කළ හැක.
ü ගර්භණි සමයේදී රක්තහීනතාව පෙන්නුම් කිරීමෙන්
ü බීටා තැලසීමියා රෝගී දරුවකු බිහි කිරීමෙන්
· තැලසීමියා රෝගී වාහක කාන්තාවන් ගැබ් ගැනීමේදී දුෂ්කරතා මතු නොවන අතර ගර්භණි වීමෙන් පසු සාර්ථක ප්රතිඵල ලබා ගත හැක.
· නමුත් ගර්භණි සමයේදී සාමාන්යයෙන් සිදුවන රුධිර හිමොග්ලොබින් මට්ටම අඩු වීම වැඩි වශයෙන් මෙවැනි කාන්තාවන්ට සිදු වන
බැවින් යකඩ හා ෆෝලික් අම්ලය ගර්භණි සමය තුළදී සැපයීම වැදගත් වේ.
· තැලසීමියා රෝගය විවිධ ආකාරවලින් හමු වේ.
· මෙහිදී සිදු වනුයේ හිමොග්ලොබින් අණුවේ පෙප්ටයිඩ් අණු නිෂ්පාදනයේ ඇති වන දුබලතායි.
· සෞඛ්ය සම්පන්න වැඩිහිටියන්ගේ හිමොග්ලොබින්වල 95 % ක් පමණ ඇල්ෆා පෙප්ටයිඩ් දෙකකින් හා බීටා පෙප්ටයිඩ් දෙකකින්
සමන්විත හිමොග්ලොබින් වර්ගය හමු වේ.
· හිමොග්ලොබින් F යනු භ්රෑණයේ බහුලවම හමු වන හිමොග්ලොබින් වර්ගය වන අතර එය සමන්විත වනුයේ ඇල්ෆා පෙප්ටයිඩ්
දෙකකින් හා ගැමා පෙප්ටයිඩ් දෙකකිනි.
· එමෙන්ම සාමාන්ය වැඩිහිටියන්ගේ හිමොග්ලොබින් සුළු ප්රතිශතයක් ඇල්ෆා හා ඩෙල්ටා පෙස්ටයිඩ් දෙක බැගින් සමන්විත වු
හිමොග්ලොබින් A2 ලෙස හමු වේ.
· හිමොග්ලොබින් F හා හිමොග්ලොබින් A2 බහුලව හමු වේ නම් ඉන් අදහස් කරනුයේ සාමාන්ය හිමොග්ලොබින් A අණුවේ දෝෂ
පවතින බවකි.
· තැලසීමියා රෝගය ඇල්ෆා තැලසීමියා, බීටා තැලසීමියා ලෙස වර්ග දෙකකට බෙදා දැක්විය හැක.
· මෙම රෝගයේදී සිදු වනුයේ රක්තාණු නිපදවීම දෝෂ සහිත වීම, රක්තාණු විනාශ වීම හා රක්තහීනතා තත්වය මතු වීමයි.
· මෙම රෝගය ලොව පුරා හමු වන අතර අධිකව හමුවනුයේ මැලේරියා රෝගය වැඩි වශයෙන් ඇති ප්රදේශවලයි.
· ඊට හේතුව තැලසීමියා වාහකයන්ට මෙම රෝගයට එරෙහිව ක්රියා කළ හැකි බැවිනි. එනම් මධ්යධරණි ප්රදේශ, අප්රිකාණු රටවල් හා
ආසියානු රටවල්ය.
· ශ්රී ලංකාවේ කුණෑගල ප්රදේශය මෙම රෝගින් බහුලවම දක්නට ලැබේ.
· මෙම රෝගය ප්රවේණික රෝගයක් වන අතර නිලීන ජාන මගින් රෝගය ඇති වේ.
තැලසීමියා රෝගී මවක් ගැබ් ගැනීම.
· ඇල්ෆා තැලසීමියා වාහක මවකගේ භ්රෑණය ඇල්ෆා තැල්සීමියා රෝගී තත්වයෙන් පෙළේ නම් මවට ගර්භවිෂ රෝගය වැළදීමට වැඩි
අවදානමක් ඇත.
· තැලසීමියා රෝගී කාන්තාවන් දරුවන් ලැබීමට පෙර මිය යාම සාමාන්යයෙන් පෙර සිදු වුවද නුතන වෛද්ය විද්යාවේ දියුණුව නිසා
රෝගී කාන්තාවන් ගැබ් ගන්නා වයස තෙක් ජිවත් වීමේ හැකියාව ලබා ඇත.
· මෙම ගර්භණි මව්වරුන්ට නිරන්තරයෙන් රුධිර පාරවිලයනය කිරීමත් ඩෙස්ෆොරොක්සමයින් ඖෂධ ගර්භණි සමය පුරාම ලබා දිම
අවශ්ය වේ.
· බීටා තැලසීමියා රෝගයේ වාහක කාන්තාවන් සාමාන්යයෙන් රෝග ලක්ෂණ නොපෙන්වුවත් එහි වාහක තත්වය ගර්භණි සමයේදී
පෙන්නුම් කළ හැක.
ü ගර්භණි සමයේදී රක්තහීනතාව පෙන්නුම් කිරීමෙන්
ü බීටා තැලසීමියා රෝගී දරුවකු බිහි කිරීමෙන්
· තැලසීමියා රෝගී වාහක කාන්තාවන් ගැබ් ගැනීමේදී දුෂ්කරතා මතු නොවන අතර ගර්භණි වීමෙන් පසු සාර්ථක ප්රතිඵල ලබා ගත හැක.
· නමුත් ගර්භණි සමයේදී සාමාන්යයෙන් සිදුවන රුධිර හිමොග්ලොබින් මට්ටම අඩු වීම වැඩි වශයෙන් මෙවැනි කාන්තාවන්ට සිදු වන
බැවින් යකඩ හා ෆෝලික් අම්ලය ගර්භණි සමය තුළදී සැපයීම වැදගත් වේ.
http://wedananasala.org
· තැලසීමියා රෝගය විවිධ ආකාරවලින් හමු වේ.
· මෙහිදී සිදු වනුයේ හිමොග්ලොබින් අණුවේ පෙප්ටයිඩ් අණු නිෂ්පාදනයේ ඇති වන දුබලතායි.
· සෞඛ්ය සම්පන්න වැඩිහිටියන්ගේ හිමොග්ලොබින්වල 95 % ක් පමණ ඇල්ෆා පෙප්ටයිඩ් දෙකකින් හා බීටා පෙප්ටයිඩ් දෙකකින්
සමන්විත හිමොග්ලොබින් වර්ගය හමු වේ.
· හිමොග්ලොබින් F යනු භ්රෑණයේ බහුලවම හමු වන හිමොග්ලොබින් වර්ගය වන අතර එය සමන්විත වනුයේ ඇල්ෆා පෙප්ටයිඩ්
දෙකකින් හා ගැමා පෙප්ටයිඩ් දෙකකිනි.
· එමෙන්ම සාමාන්ය වැඩිහිටියන්ගේ හිමොග්ලොබින් සුළු ප්රතිශතයක් ඇල්ෆා හා ඩෙල්ටා පෙස්ටයිඩ් දෙක බැගින් සමන්විත වු
හිමොග්ලොබින් A2 ලෙස හමු වේ.
· හිමොග්ලොබින් F හා හිමොග්ලොබින් A2 බහුලව හමු වේ නම් ඉන් අදහස් කරනුයේ සාමාන්ය හිමොග්ලොබින් A අණුවේ දෝෂ
පවතින බවකි.
· තැලසීමියා රෝගය ඇල්ෆා තැලසීමියා, බීටා තැලසීමියා ලෙස වර්ග දෙකකට බෙදා දැක්විය හැක.
· මෙම රෝගයේදී සිදු වනුයේ රක්තාණු නිපදවීම දෝෂ සහිත වීම, රක්තාණු විනාශ වීම හා රක්තහීනතා තත්වය මතු වීමයි.
· මෙම රෝගය ලොව පුරා හමු වන අතර අධිකව හමුවනුයේ මැලේරියා රෝගය වැඩි වශයෙන් ඇති ප්රදේශවලයි.
· ඊට හේතුව තැලසීමියා වාහකයන්ට මෙම රෝගයට එරෙහිව ක්රියා කළ හැකි බැවිනි. එනම් මධ්යධරණි ප්රදේශ, අප්රිකාණු රටවල් හා
ආසියානු රටවල්ය.
· ශ්රී ලංකාවේ කුණෑගල ප්රදේශය මෙම රෝගින් බහුලවම දක්නට ලැබේ.
· මෙම රෝගය ප්රවේණික රෝගයක් වන අතර නිලීන ජාන මගින් රෝගය ඇති වේ.
තැලසීමියා රෝගී මවක් ගැබ් ගැනීම.
· ඇල්ෆා තැලසීමියා වාහක මවකගේ භ්රෑණය ඇල්ෆා තැල්සීමියා රෝගී තත්වයෙන් පෙළේ නම් මවට ගර්භවිෂ රෝගය වැළදීමට වැඩි
අවදානමක් ඇත.
· තැලසීමියා රෝගී කාන්තාවන් දරුවන් ලැබීමට පෙර මිය යාම සාමාන්යයෙන් පෙර සිදු වුවද නුතන වෛද්ය විද්යාවේ දියුණුව නිසා
රෝගී කාන්තාවන් ගැබ් ගන්නා වයස තෙක් ජිවත් වීමේ හැකියාව ලබා ඇත.
· මෙම ගර්භණි මව්වරුන්ට නිරන්තරයෙන් රුධිර පාරවිලයනය කිරීමත් ඩෙස්ෆොරොක්සමයින් ඖෂධ ගර්භණි සමය පුරාම ලබා දිම
අවශ්ය වේ.
· බීටා තැලසීමියා රෝගයේ වාහක කාන්තාවන් සාමාන්යයෙන් රෝග ලක්ෂණ නොපෙන්වුවත් එහි වාහක තත්වය ගර්භණි සමයේදී
පෙන්නුම් කළ හැක.
ü ගර්භණි සමයේදී රක්තහීනතාව පෙන්නුම් කිරීමෙන්
ü බීටා තැලසීමියා රෝගී දරුවකු බිහි කිරීමෙන්
· තැලසීමියා රෝගී වාහක කාන්තාවන් ගැබ් ගැනීමේදී දුෂ්කරතා මතු නොවන අතර ගර්භණි වීමෙන් පසු සාර්ථක ප්රතිඵල ලබා ගත හැක.
· නමුත් ගර්භණි සමයේදී සාමාන්යයෙන් සිදුවන රුධිර හිමොග්ලොබින් මට්ටම අඩු වීම වැඩි වශයෙන් මෙවැනි කාන්තාවන්ට සිදු වන
බැවින් යකඩ හා ෆෝලික් අම්ලය ගර්භණි සමය තුළදී සැපයීම වැදගත් වේ.
· තැලසීමියා රෝගය විවිධ ආකාරවලින් හමු වේ.
· මෙහිදී සිදු වනුයේ හිමොග්ලොබින් අණුවේ පෙප්ටයිඩ් අණු නිෂ්පාදනයේ ඇති වන දුබලතායි.
· සෞඛ්ය සම්පන්න වැඩිහිටියන්ගේ හිමොග්ලොබින්වල 95 % ක් පමණ ඇල්ෆා පෙප්ටයිඩ් දෙකකින් හා බීටා පෙප්ටයිඩ් දෙකකින්
සමන්විත හිමොග්ලොබින් වර්ගය හමු වේ.
· හිමොග්ලොබින් F යනු භ්රෑණයේ බහුලවම හමු වන හිමොග්ලොබින් වර්ගය වන අතර එය සමන්විත වනුයේ ඇල්ෆා පෙප්ටයිඩ්
දෙකකින් හා ගැමා පෙප්ටයිඩ් දෙකකිනි.
· එමෙන්ම සාමාන්ය වැඩිහිටියන්ගේ හිමොග්ලොබින් සුළු ප්රතිශතයක් ඇල්ෆා හා ඩෙල්ටා පෙස්ටයිඩ් දෙක බැගින් සමන්විත වු
හිමොග්ලොබින් A2 ලෙස හමු වේ.
· හිමොග්ලොබින් F හා හිමොග්ලොබින් A2 බහුලව හමු වේ නම් ඉන් අදහස් කරනුයේ සාමාන්ය හිමොග්ලොබින් A අණුවේ දෝෂ
පවතින බවකි.
· තැලසීමියා රෝගය ඇල්ෆා තැලසීමියා, බීටා තැලසීමියා ලෙස වර්ග දෙකකට බෙදා දැක්විය හැක.
· මෙම රෝගයේදී සිදු වනුයේ රක්තාණු නිපදවීම දෝෂ සහිත වීම, රක්තාණු විනාශ වීම හා රක්තහීනතා තත්වය මතු වීමයි.
· මෙම රෝගය ලොව පුරා හමු වන අතර අධිකව හමුවනුයේ මැලේරියා රෝගය වැඩි වශයෙන් ඇති ප්රදේශවලයි.
· ඊට හේතුව තැලසීමියා වාහකයන්ට මෙම රෝගයට එරෙහිව ක්රියා කළ හැකි බැවිනි. එනම් මධ්යධරණි ප්රදේශ, අප්රිකාණු රටවල් හා
ආසියානු රටවල්ය.
· ශ්රී ලංකාවේ කුණෑගල ප්රදේශය මෙම රෝගින් බහුලවම දක්නට ලැබේ.
· මෙම රෝගය ප්රවේණික රෝගයක් වන අතර නිලීන ජාන මගින් රෝගය ඇති වේ.
තැලසීමියා රෝගී මවක් ගැබ් ගැනීම.
· ඇල්ෆා තැලසීමියා වාහක මවකගේ භ්රෑණය ඇල්ෆා තැල්සීමියා රෝගී තත්වයෙන් පෙළේ නම් මවට ගර්භවිෂ රෝගය වැළදීමට වැඩි
අවදානමක් ඇත.
· තැලසීමියා රෝගී කාන්තාවන් දරුවන් ලැබීමට පෙර මිය යාම සාමාන්යයෙන් පෙර සිදු වුවද නුතන වෛද්ය විද්යාවේ දියුණුව නිසා
රෝගී කාන්තාවන් ගැබ් ගන්නා වයස තෙක් ජිවත් වීමේ හැකියාව ලබා ඇත.
· මෙම ගර්භණි මව්වරුන්ට නිරන්තරයෙන් රුධිර පාරවිලයනය කිරීමත් ඩෙස්ෆොරොක්සමයින් ඖෂධ ගර්භණි සමය පුරාම ලබා දිම
අවශ්ය වේ.
· බීටා තැලසීමියා රෝගයේ වාහක කාන්තාවන් සාමාන්යයෙන් රෝග ලක්ෂණ නොපෙන්වුවත් එහි වාහක තත්වය ගර්භණි සමයේදී
පෙන්නුම් කළ හැක.
ü ගර්භණි සමයේදී රක්තහීනතාව පෙන්නුම් කිරීමෙන්
ü බීටා තැලසීමියා රෝගී දරුවකු බිහි කිරීමෙන්
· තැලසීමියා රෝගී වාහක කාන්තාවන් ගැබ් ගැනීමේදී දුෂ්කරතා මතු නොවන අතර ගර්භණි වීමෙන් පසු සාර්ථක ප්රතිඵල ලබා ගත හැක.
· නමුත් ගර්භණි සමයේදී සාමාන්යයෙන් සිදුවන රුධිර හිමොග්ලොබින් මට්ටම අඩු වීම වැඩි වශයෙන් මෙවැනි කාන්තාවන්ට සිදු වන
බැවින් යකඩ හා ෆෝලික් අම්ලය ගර්භණි සමය තුළදී සැපයීම වැදගත් වේ.
6/15/09
"Thalassemia, Love and Needles"
A Day in the Life of Thalassemia Patient
Cooley's Anemia, also known as Thalassemia, is a fatal genetic blood disorder which affects people of Mediterranean descent. Today, in order to survive, children must receive blood transfusions every two weeks and receive painful drug injections via an infusion pump every night of their lives.
In its major form Cooley's Anemia is fatal. Over two million people in the United States are carriers of the minor form and do not even know it. The bad news is that these people are at risk in passing along the major form if they have children. The good news is that finally a cure is in sight.
WASHINGTON, D.C. - The AHEPA Cooley's Anemia Foundation released a documentary short that captures a young boy's daily battle against Thalassemia, a rare blood disorder that primarily affects, but is not limited to, individuals of Mediterranean descent, announced AHEPA Cooley's Anemia Foundation Chair Fanoula Gulas.
"Thalassemia, Love and Needles" is a five-minute video that profiles the life of Alex Gulas, who suffers from Thalassemia, also known as Cooley's Anemia. The viewer walks in the shoes of Alex as he undergoes medical treatment and blood transfusions all of which are essential to his survival.
"The documentary's purpose is to raise the level of awareness about this potentially fatal blood disorder by chronicling what a person must endure on a daily basis to survive," said Gulas, who is Alex's mother. "Obviously, our goal is to find a cure by supporting the scientific work of medical researchers working diligently to find one. We can only accomplish our goal with the community's assistance and support of medical research."
"Thalassemia, Love and Needles" is directed by George Carlos of Birmingham, Ala.
"We encourage you to share the documentary with family, friends, and colleagues to help us meet our mission," said Gulas. "We ask you keep the AHEPA Cooley's Anemia Foundation in your mind in the course of your charitable giving
AHEPA headquarters encourages all AHEPA Family chapters to reaffirm their commitment to finding a cure for Cooley's Anemia. Donations to help find a cure for Cooley's Anemia can be made online by visiting www.ahepaonline.com/contribute.aspx.
Cooley's Anemia, also known as Thalassemia, is a fatal genetic blood disorder which affects people of Mediterranean descent. Today, in order to survive, children must receive blood transfusions every two weeks and receive painful drug injections via an infusion pump every night of their lives.
In its major form Cooley's Anemia is fatal. Over two million people in the United States are carriers of the minor form and do not even know it. The bad news is that these people are at risk in passing along the major form if they have children. The good news is that finally a cure is in sight.
WASHINGTON, D.C. - The AHEPA Cooley's Anemia Foundation released a documentary short that captures a young boy's daily battle against Thalassemia, a rare blood disorder that primarily affects, but is not limited to, individuals of Mediterranean descent, announced AHEPA Cooley's Anemia Foundation Chair Fanoula Gulas.
"Thalassemia, Love and Needles" is a five-minute video that profiles the life of Alex Gulas, who suffers from Thalassemia, also known as Cooley's Anemia. The viewer walks in the shoes of Alex as he undergoes medical treatment and blood transfusions all of which are essential to his survival.
"The documentary's purpose is to raise the level of awareness about this potentially fatal blood disorder by chronicling what a person must endure on a daily basis to survive," said Gulas, who is Alex's mother. "Obviously, our goal is to find a cure by supporting the scientific work of medical researchers working diligently to find one. We can only accomplish our goal with the community's assistance and support of medical research."
"Thalassemia, Love and Needles" is directed by George Carlos of Birmingham, Ala.
"We encourage you to share the documentary with family, friends, and colleagues to help us meet our mission," said Gulas. "We ask you keep the AHEPA Cooley's Anemia Foundation in your mind in the course of your charitable giving
AHEPA headquarters encourages all AHEPA Family chapters to reaffirm their commitment to finding a cure for Cooley's Anemia. Donations to help find a cure for Cooley's Anemia can be made online by visiting www.ahepaonline.com/contribute.aspx.
6/11/09
Thalassemia and Pregnancy
There is a connection between thalassemia and pregnancy in that the disease is an inherited condition. Parents who either have the disease or are carriers for it can pass thalassemia onto their child. Couples who are concerned about thalassemia and pregnancy can undergo genetic testing or use in vitro fertilization to minimize the chances of having a baby with thalassemia.
Is There a Link Between Thalassemia and Pregnancy?
Thalassemia is a type of inherited blood disorder that can cause anemia. It affects a person's ability to produce hemoglobin, which is the protein in red blood cells that delivers oxygen to all parts of the body.
Approximately 100,000 babies worldwide are born with severe forms of thalassemia each year. However, the condition occurs more frequently in people of Italian, Greek, Middle Eastern, Southern Asian, and African ancestry.
The Thalassemia Gene and Pregnancy
Parents who carry the mutated thalassemia gene can pass the gene on to their children. A child who inherits one mutated gene is considered to be a carrier, also known as thalassemia trait. Most people who have thalassemia trait lead completely normal, healthy lives.
Thalassemia and Pregnancy: What's the Risk?
If two people with beta thalassemia trait (carriers) have a baby, one of three things can happen:
•The baby could receive two normal genes (one from each parent) and have normal blood (1 in 4 chance)
•The baby could receive one normal gene from one parent and one variant gene from the other parent, and have thalassemia trait (2 in 4 chance)
•The baby could receive two thalassemia genes (one from each parent) and have a moderate to severe form of the disease (1 in 4 chance).
Thalassemia and Pregnancy: Genetic Tests
If a women or her spouse has a family history of thalassemia, they may want to consider genetic testing before becoming pregnant. Blood tests and family genetic studies can show whether an individual has thalassemia or is a carrier of thalassemia trait. If both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or whether to have a fetus that has tested positive for thalassemia.
Thalassemia and Pregnancy: Prenatal Testing
Prenatal testing for thalassemia can be done when a woman is 11 weeks pregnent using chorionic villi sampling (CVS). CVS involves the removal of a tiny piece of the placenta, which will then be tested. Prenatal testing can also be done with an amniocentesis when a woman is 16 weeks pregnant. In this procedure, a needle is used to take a sample of the fluid surrounding the baby, which will then be tested.
Thalassemia and Pregnancy: Assisted Reproductive Therapy
Assisted reproductive therapy is an option for people who are carriers and who don't want to risk giving birth to a child with thalassemia.
A new technique, pre-implantation genetic diagnosis (PGD), used in conjunction with in vitro fertilization, may enable parents who have thalassemia or who carry the trait to give birth to healthy babies. Embryos created in vitro are tested for the thalassemia gene before being implanted into the mother, allowing only healthy embryos to be selected.
Is There a Link Between Thalassemia and Pregnancy?
Thalassemia is a type of inherited blood disorder that can cause anemia. It affects a person's ability to produce hemoglobin, which is the protein in red blood cells that delivers oxygen to all parts of the body.
Approximately 100,000 babies worldwide are born with severe forms of thalassemia each year. However, the condition occurs more frequently in people of Italian, Greek, Middle Eastern, Southern Asian, and African ancestry.
The Thalassemia Gene and Pregnancy
Parents who carry the mutated thalassemia gene can pass the gene on to their children. A child who inherits one mutated gene is considered to be a carrier, also known as thalassemia trait. Most people who have thalassemia trait lead completely normal, healthy lives.
Thalassemia and Pregnancy: What's the Risk?
If two people with beta thalassemia trait (carriers) have a baby, one of three things can happen:
•The baby could receive two normal genes (one from each parent) and have normal blood (1 in 4 chance)
•The baby could receive one normal gene from one parent and one variant gene from the other parent, and have thalassemia trait (2 in 4 chance)
•The baby could receive two thalassemia genes (one from each parent) and have a moderate to severe form of the disease (1 in 4 chance).
Thalassemia and Pregnancy: Genetic Tests
If a women or her spouse has a family history of thalassemia, they may want to consider genetic testing before becoming pregnant. Blood tests and family genetic studies can show whether an individual has thalassemia or is a carrier of thalassemia trait. If both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or whether to have a fetus that has tested positive for thalassemia.
Thalassemia and Pregnancy: Prenatal Testing
Prenatal testing for thalassemia can be done when a woman is 11 weeks pregnent using chorionic villi sampling (CVS). CVS involves the removal of a tiny piece of the placenta, which will then be tested. Prenatal testing can also be done with an amniocentesis when a woman is 16 weeks pregnant. In this procedure, a needle is used to take a sample of the fluid surrounding the baby, which will then be tested.
Thalassemia and Pregnancy: Assisted Reproductive Therapy
Assisted reproductive therapy is an option for people who are carriers and who don't want to risk giving birth to a child with thalassemia.
A new technique, pre-implantation genetic diagnosis (PGD), used in conjunction with in vitro fertilization, may enable parents who have thalassemia or who carry the trait to give birth to healthy babies. Embryos created in vitro are tested for the thalassemia gene before being implanted into the mother, allowing only healthy embryos to be selected.
6/1/09
Anemia Drugs May Raise Death Risk in Cancer Patients
Latest findings support recent label warnings for Procrit, Aranesp, experts say
By Steven Reinberg, HealthDay Reporter
THURSDAY, April 30 (HealthDay News) -- Two new studies provide more evidence that drugs such as Procrit and Aranesp, often used by cancer patients to fight anemia-linked fatigue, may boost the risk of death and serious adverse events such as blood clots.
These drugs, called erythropoiesis-stimulating agents (ESAs), have also been associated in prior studies with increased risk of heart attack, stroke and tumor growth. The primary argument for the continued use of these drugs is that they help reduce the number of blood transfusions some cancer patients need, while improving quality of life.
However, a co-author of one paper, Dr. Anthony Reiman, from the University of Alberta, Canada, said his team is "supporting other groups that are recommending great caution in using these drugs for cancer patients, and in routine circumstances they may not be indicated. We hope the drugs would still be made available for people for whom transfusion isn't a good option -- but those are very limited circumstances."
ESAs include erythropoietin (Epogen, Procrit) and darbepoetin (Aranesp). They work by stimulating the bone marrow to produce new red blood cells, according to the U.S. National Institutes of Health. They are used to treat anemia caused by chemotherapy and to treat anemia in people with chronic kidney disease who are on dialysis.
But rising concern led the U.S. Food and Drug Administration in 2007 to ask the drugs' manufacturers to add a "black box" warning to the medications. The warning indicates that the medications should be used at the lowest possible doses to avoid risks such as blood clots, heart attacks, stroke, congestive heart failure, increased tumor growth and an increased risk of death. The FDA also recommended that the medications be prescribed at the lowest doses possible because trials generally indicated an increased risk when blood levels were raised above 12 grams per deciliter.
The two new studies may buttress that move. In the first study, Reiman and other researchers analyzed data from 52 clinical trials that included more than 12,000 people.
The result: "The use of drugs to encourage red blood cell formation in cancer patients with anemia increases the risk of death and serious adverse events such as blood clots," according to co-researcher Dr. Scott Klarenbach, an assistant professor at the University of Alberta.
Although risk of death was only 15 percent to 16 percent higher among patients who used the drugs than those who did not, the high death rates among cancer patients means this increase could affect a significant number of people, the researchers say.
"These medications should not routinely be used as an alternative to blood transfusions in patients with anemia related to cancer, unless future studies demonstrate safety and clinical benefits," Klarenbach said. "While use of medications [instead of blood transfusion] may be appealing to both patients and practitioners, their use is associated with an increased risk of death."
"At best, these drugs don't seem to improve longevity," Reiman said. "They may have some benefits in improving quality of life."
The report is published in the April 30 online edition of the Canadian Medical Association Journal.
In another report, in the May 2 issue of The Lancet, researchers led by Dr. Julia Bohlius, from the University of Bern in Switzerland, looked at the findings from 53 cancer trials that included a total of almost 14,000 patients. More than 1,500 patients died during the study period, and almost 5,000 patients died overall.
The researchers found that ESAs were associated with a 17 percent increase in deaths during the study period. Among patients receiving chemotherapy, ESAs increased the death risk by 10 percent, they report.
The findings "show that erythropoiesis-stimulating agents increase mortality in all patients with cancer, and a similar increase might exist in patients on chemotherapy," the authors wrote. "In clinical practice, the increased risks of death and thromboembolic events should be balanced against the benefits of treatment with erythropoiesis-stimulating agents, taking into account each patient's clinical circumstances and preferences. More data are needed for the effect of these drugs on quality of life and tumor progression, and meta-analyses similar to this one will address these questions," they added.
Dr. Charles Bennett, the A.C. Beuhler professor of geriatric medicine at the Feinberg School of Medicine at Northwestern University, helped conduct a study, published in the Journal of the American Medical Association early last year, that also found similar risks for the use of ESAs by cancer patients. He believes the new data support those findings.
"The message is clear: There is a safety concern that's real and significant," Bennett said.
In addition, Bennett believes that quality-of-life issues and the need for a reduction in blood transfusions for cancer patients are overstated. "The [appropriate] use of these drugs in the United States is for palliative care in cancer patients and I support that," he said.
By Steven Reinberg, HealthDay Reporter
THURSDAY, April 30 (HealthDay News) -- Two new studies provide more evidence that drugs such as Procrit and Aranesp, often used by cancer patients to fight anemia-linked fatigue, may boost the risk of death and serious adverse events such as blood clots.
These drugs, called erythropoiesis-stimulating agents (ESAs), have also been associated in prior studies with increased risk of heart attack, stroke and tumor growth. The primary argument for the continued use of these drugs is that they help reduce the number of blood transfusions some cancer patients need, while improving quality of life.
However, a co-author of one paper, Dr. Anthony Reiman, from the University of Alberta, Canada, said his team is "supporting other groups that are recommending great caution in using these drugs for cancer patients, and in routine circumstances they may not be indicated. We hope the drugs would still be made available for people for whom transfusion isn't a good option -- but those are very limited circumstances."
ESAs include erythropoietin (Epogen, Procrit) and darbepoetin (Aranesp). They work by stimulating the bone marrow to produce new red blood cells, according to the U.S. National Institutes of Health. They are used to treat anemia caused by chemotherapy and to treat anemia in people with chronic kidney disease who are on dialysis.
But rising concern led the U.S. Food and Drug Administration in 2007 to ask the drugs' manufacturers to add a "black box" warning to the medications. The warning indicates that the medications should be used at the lowest possible doses to avoid risks such as blood clots, heart attacks, stroke, congestive heart failure, increased tumor growth and an increased risk of death. The FDA also recommended that the medications be prescribed at the lowest doses possible because trials generally indicated an increased risk when blood levels were raised above 12 grams per deciliter.
The two new studies may buttress that move. In the first study, Reiman and other researchers analyzed data from 52 clinical trials that included more than 12,000 people.
The result: "The use of drugs to encourage red blood cell formation in cancer patients with anemia increases the risk of death and serious adverse events such as blood clots," according to co-researcher Dr. Scott Klarenbach, an assistant professor at the University of Alberta.
Although risk of death was only 15 percent to 16 percent higher among patients who used the drugs than those who did not, the high death rates among cancer patients means this increase could affect a significant number of people, the researchers say.
"These medications should not routinely be used as an alternative to blood transfusions in patients with anemia related to cancer, unless future studies demonstrate safety and clinical benefits," Klarenbach said. "While use of medications [instead of blood transfusion] may be appealing to both patients and practitioners, their use is associated with an increased risk of death."
"At best, these drugs don't seem to improve longevity," Reiman said. "They may have some benefits in improving quality of life."
The report is published in the April 30 online edition of the Canadian Medical Association Journal.
In another report, in the May 2 issue of The Lancet, researchers led by Dr. Julia Bohlius, from the University of Bern in Switzerland, looked at the findings from 53 cancer trials that included a total of almost 14,000 patients. More than 1,500 patients died during the study period, and almost 5,000 patients died overall.
The researchers found that ESAs were associated with a 17 percent increase in deaths during the study period. Among patients receiving chemotherapy, ESAs increased the death risk by 10 percent, they report.
The findings "show that erythropoiesis-stimulating agents increase mortality in all patients with cancer, and a similar increase might exist in patients on chemotherapy," the authors wrote. "In clinical practice, the increased risks of death and thromboembolic events should be balanced against the benefits of treatment with erythropoiesis-stimulating agents, taking into account each patient's clinical circumstances and preferences. More data are needed for the effect of these drugs on quality of life and tumor progression, and meta-analyses similar to this one will address these questions," they added.
Dr. Charles Bennett, the A.C. Beuhler professor of geriatric medicine at the Feinberg School of Medicine at Northwestern University, helped conduct a study, published in the Journal of the American Medical Association early last year, that also found similar risks for the use of ESAs by cancer patients. He believes the new data support those findings.
"The message is clear: There is a safety concern that's real and significant," Bennett said.
In addition, Bennett believes that quality-of-life issues and the need for a reduction in blood transfusions for cancer patients are overstated. "The [appropriate] use of these drugs in the United States is for palliative care in cancer patients and I support that," he said.
5/28/09
Recent studies suggest that using umbilical cord blood from a newborn sibling may be as effective as a bone marrow transplant
Is there a cure for thalassemia?
Some children with thalassemia can be cured with a bone marrow transplant. However, this form of treatment is most successful when a donor who is an exact genetic match is available. Generally, a sibling or other family member is most likely to be an exact match. The procedure can cure about 85 percent of children who have a fully matched family donor 9(). However, only about 30 percent of children with thalassemia have a family member who is a suitable donor (4). The procedure is risky and can result in death.
Recent studies suggest that using umbilical cord blood from a newborn sibling may be as effective as a bone marrow transplant (9). Like bone marrow, cord blood contains unspecialized cells called stem cells that produce all other blood cell.
What research on thalassemia is being done?
Scientists are working on better ways to remove excess iron from the body to prevent or delay iron overload. They are developing and testing new oral iron-chelating drugs and looking at whether combining one of these drugs with deferoxamine may be more effective than either treatment alone (1, 2).
Researchers are studying the effectiveness of certain drugs (including hydroxyurea, a drug used to treat sickle cell disease) in reactivating the genes for fetal hemoglobin. All humans produce a fetal form of hemoglobin before birth. After birth, natural genetic switches "turn off" production of fetal hemoglobin and "turn on" production of adult hemoglobin. Scientists are seeking ways to activate these genetic switches so that they can make the blood cells of individuals with beta thalassemia produce more fetal hemoglobin to make up for their deficiency of adult hemoglobin. Studies to date suggest that treatment with these drugs may be helpful for some patients with beta thalassemia intermedia (2).
Researchers also are exploring the possibility that dietary treatments, such as with vitamin E, may help reduce organ damage from iron buildup (1, 6). Others continue to improve bone marrow transplantation methods that may offer a cure to more children with thalassemia.
March of Dimes grantees have been among the many scientists seeking to develop an effective form of gene therapy that may offer a cure for thalassemia. Gene therapy may involve inserting a normal alpha or beta globin gene into the patient’s stem cells, possibly allowing these immature blood cells to produce normal red blood cells.
Some children with thalassemia can be cured with a bone marrow transplant. However, this form of treatment is most successful when a donor who is an exact genetic match is available. Generally, a sibling or other family member is most likely to be an exact match. The procedure can cure about 85 percent of children who have a fully matched family donor 9(). However, only about 30 percent of children with thalassemia have a family member who is a suitable donor (4). The procedure is risky and can result in death.
Recent studies suggest that using umbilical cord blood from a newborn sibling may be as effective as a bone marrow transplant (9). Like bone marrow, cord blood contains unspecialized cells called stem cells that produce all other blood cell.
What research on thalassemia is being done?
Scientists are working on better ways to remove excess iron from the body to prevent or delay iron overload. They are developing and testing new oral iron-chelating drugs and looking at whether combining one of these drugs with deferoxamine may be more effective than either treatment alone (1, 2).
Researchers are studying the effectiveness of certain drugs (including hydroxyurea, a drug used to treat sickle cell disease) in reactivating the genes for fetal hemoglobin. All humans produce a fetal form of hemoglobin before birth. After birth, natural genetic switches "turn off" production of fetal hemoglobin and "turn on" production of adult hemoglobin. Scientists are seeking ways to activate these genetic switches so that they can make the blood cells of individuals with beta thalassemia produce more fetal hemoglobin to make up for their deficiency of adult hemoglobin. Studies to date suggest that treatment with these drugs may be helpful for some patients with beta thalassemia intermedia (2).
Researchers also are exploring the possibility that dietary treatments, such as with vitamin E, may help reduce organ damage from iron buildup (1, 6). Others continue to improve bone marrow transplantation methods that may offer a cure to more children with thalassemia.
March of Dimes grantees have been among the many scientists seeking to develop an effective form of gene therapy that may offer a cure for thalassemia. Gene therapy may involve inserting a normal alpha or beta globin gene into the patient’s stem cells, possibly allowing these immature blood cells to produce normal red blood cells.
5/27/09
Radiofrequency ablation of the spleen in patients with thalassemia intermedia: a pilot study.
Research article summary (published 29 Apr 2009):
OBJECTIVE:
We investigated the efficacy and safety of radiofrequency ablation on the hematologic parameters in patients with thalassemia intermedia (TI).
MATERIALS AND METHODS:
Radiofrequency ablation of the spleen was performed in 15 children with TI under general anesthesia using a cool-tip radiofrequency probe. These patients were regarded as the radiofrequency ablation group. Nine patients with TI who underwent partial splenectomy during the past 3 years and another 14 patients with TI who underwent total splenectomy were also enrolled in this study as the first and second control groups (CG1 and CG2).
RESULTS:
In the radiofrequency ablation group, two (13%) patients showed a significant increase in the mean hemoglobin level compared with the year before (1.5 and 1.8 g/dL). In addition, three (20%) other patients became transfusion-free in the year after radiofrequency ablation. In CG1, one (11%) patient showed a significant increase in hemoglobin the year after partial splenectomy, and another two (22%) patients became transfusion-free. In CG2, six (43%) patients revealed a significant increase in hemoglobin in the year after total splenectomy, and another four (29%) revealed a significant decrease in the need for transfusions. The mean increase in hemoglobin and platelet count was more significant in CG2 than in the radiofrequency ablation group and CG1. The mean hospital stay was significantly shorter in the radiofrequency ablation group (1.7 days vs 7.5 and 8.2 days in CG1 and CG2, respectively).
CONCLUSION:
We believe that radiofrequency ablation of the spleen can be a safe procedure in patients with TI and is at least as effective as partial splenectomy, having only minor self-limiting complications.
OBJECTIVE:
We investigated the efficacy and safety of radiofrequency ablation on the hematologic parameters in patients with thalassemia intermedia (TI).
MATERIALS AND METHODS:
Radiofrequency ablation of the spleen was performed in 15 children with TI under general anesthesia using a cool-tip radiofrequency probe. These patients were regarded as the radiofrequency ablation group. Nine patients with TI who underwent partial splenectomy during the past 3 years and another 14 patients with TI who underwent total splenectomy were also enrolled in this study as the first and second control groups (CG1 and CG2).
RESULTS:
In the radiofrequency ablation group, two (13%) patients showed a significant increase in the mean hemoglobin level compared with the year before (1.5 and 1.8 g/dL). In addition, three (20%) other patients became transfusion-free in the year after radiofrequency ablation. In CG1, one (11%) patient showed a significant increase in hemoglobin the year after partial splenectomy, and another two (22%) patients became transfusion-free. In CG2, six (43%) patients revealed a significant increase in hemoglobin in the year after total splenectomy, and another four (29%) revealed a significant decrease in the need for transfusions. The mean increase in hemoglobin and platelet count was more significant in CG2 than in the radiofrequency ablation group and CG1. The mean hospital stay was significantly shorter in the radiofrequency ablation group (1.7 days vs 7.5 and 8.2 days in CG1 and CG2, respectively).
CONCLUSION:
We believe that radiofrequency ablation of the spleen can be a safe procedure in patients with TI and is at least as effective as partial splenectomy, having only minor self-limiting complications.
5/22/09
Breakthrough in sickle cell disease and thalassemia research
Researchers have identified a gene that directly affects the production of a form of hemoglobin that is instrumental in modifying the severity of the inherited blood disorders sickle cell disease and thalassemia.
The discovery could lead to breakthrough therapies for sickle cell disease and thalassemia, which could potentially eliminate the devastating and life-threatening complications of these diseases, such as severe pain, damage to the eyes and other organs, infections, and stroke.
"Human Fetal Hemoglobin Expression is Regulated by the Developmental Stage-Specific Repressor BCL11A," is published online in Science December 4. The study was conducted by researchers at Children's Hospital Boston and Dana-Farber Cancer Institute and supported by the National Institutes of Health's National Heart, Lung, and Blood Institute (NHLBI) and National Institutes of Diabetes and Digestive and Kidney Diseases, and by the Howard Hughes Medical Institute.
Hemoglobin is the protein in red blood cells that carries oxygen to the body's tissues. In sickle cell disease, hemoglobin is abnormal and sticks together. The red blood cells become stiff and sickle-shaped, causing them to block blood vessels and rob tissues of necessary blood and oxygen. In thalassemia, the body has trouble producing adult forms of hemoglobin.
Other studies have shown that in patients with sickle cell disease, those who continue to produce fetal hemoglobin (HbF) have much milder forms of sickle cell anemia. For years, scientists have sought ways to increase HbF production in patients with sickle cell disease and thalassemia.
Researchers report that by suppressing a gene called BCL11A, HbF production improves dramatically. Their findings provide new insights into the mechanisms involved in the body's switch from producing fetal hemoglobin to adult hemoglobin and identify a potential new target for therapies that could dramatically alter the course of sickle cell anemia and thalassemia.
The researchers built upon their recently reported results of genome-wide association studies that identified several gene variants associated with HbF levels. BCL11A was found to have the greatest effect on HbF levels. In the follow-up study reported today, they report that BCL11A encodes a transcription factor that directly suppresses HbF production.
A drug therapy that increases HbF levels enough to modify the severity of sickle cell disease is currently available. The drug hydroxyurea was approved by the FDA in 1998 to prevent pain crises in adults with sickle cell disease after studies showed that it increases fetal hemoglobin production, reduces the damaging effects of sickle cell disease, and improves some aspects of quality of life. Use of hydroxyurea is limited, however, in part because not all patients respond to the drug, and there are short-term and long-term adverse effects. New therapies targeting BCL11A would be the first to directly affect the natural processes involved in increasing HbF.
WHO: Alan Michelson, M.D., Ph.D., NHLBI associate director for basic research, and Susan Shurin, M.D., NHLBI deputy director and acting director of the NHLBI Division of Blood Diseases and Resources, are available to comment on these findings.
WHY: Sickle cell disease is the most common inherited blood disorder. In the United States, it affects approximately 70,000 people, primarily African Americans. Worldwide, sickle cell anemia affects millions of people and is found in people whose families come from Africa, South or Central America (especially Panama), Caribbean islands, Mediterranean countries, India, and Saudi Arabia.
The pain and complications associated with sickle cell disease can have a profound impact on patients' quality of life, ability to work, and long-term health and well-being. In addition, people with sickle cell disease have a shortened life expectancy due to infections, lung problems, and stroke.
Treatments developed over the past three decades have led to the doubling of the life expectancy of sickle cell disease patients between 1972 and 2002. These treatments include medications, blood and bone marrow transfusions, and other procedures to relieve or prevent complications. Until now, however, scientists could not directly target processes known to affect the severity of sickle cell disease.
The discovery could lead to breakthrough therapies for sickle cell disease and thalassemia, which could potentially eliminate the devastating and life-threatening complications of these diseases, such as severe pain, damage to the eyes and other organs, infections, and stroke.
"Human Fetal Hemoglobin Expression is Regulated by the Developmental Stage-Specific Repressor BCL11A," is published online in Science December 4. The study was conducted by researchers at Children's Hospital Boston and Dana-Farber Cancer Institute and supported by the National Institutes of Health's National Heart, Lung, and Blood Institute (NHLBI) and National Institutes of Diabetes and Digestive and Kidney Diseases, and by the Howard Hughes Medical Institute.
Hemoglobin is the protein in red blood cells that carries oxygen to the body's tissues. In sickle cell disease, hemoglobin is abnormal and sticks together. The red blood cells become stiff and sickle-shaped, causing them to block blood vessels and rob tissues of necessary blood and oxygen. In thalassemia, the body has trouble producing adult forms of hemoglobin.
Other studies have shown that in patients with sickle cell disease, those who continue to produce fetal hemoglobin (HbF) have much milder forms of sickle cell anemia. For years, scientists have sought ways to increase HbF production in patients with sickle cell disease and thalassemia.
Researchers report that by suppressing a gene called BCL11A, HbF production improves dramatically. Their findings provide new insights into the mechanisms involved in the body's switch from producing fetal hemoglobin to adult hemoglobin and identify a potential new target for therapies that could dramatically alter the course of sickle cell anemia and thalassemia.
The researchers built upon their recently reported results of genome-wide association studies that identified several gene variants associated with HbF levels. BCL11A was found to have the greatest effect on HbF levels. In the follow-up study reported today, they report that BCL11A encodes a transcription factor that directly suppresses HbF production.
A drug therapy that increases HbF levels enough to modify the severity of sickle cell disease is currently available. The drug hydroxyurea was approved by the FDA in 1998 to prevent pain crises in adults with sickle cell disease after studies showed that it increases fetal hemoglobin production, reduces the damaging effects of sickle cell disease, and improves some aspects of quality of life. Use of hydroxyurea is limited, however, in part because not all patients respond to the drug, and there are short-term and long-term adverse effects. New therapies targeting BCL11A would be the first to directly affect the natural processes involved in increasing HbF.
WHO: Alan Michelson, M.D., Ph.D., NHLBI associate director for basic research, and Susan Shurin, M.D., NHLBI deputy director and acting director of the NHLBI Division of Blood Diseases and Resources, are available to comment on these findings.
WHY: Sickle cell disease is the most common inherited blood disorder. In the United States, it affects approximately 70,000 people, primarily African Americans. Worldwide, sickle cell anemia affects millions of people and is found in people whose families come from Africa, South or Central America (especially Panama), Caribbean islands, Mediterranean countries, India, and Saudi Arabia.
The pain and complications associated with sickle cell disease can have a profound impact on patients' quality of life, ability to work, and long-term health and well-being. In addition, people with sickle cell disease have a shortened life expectancy due to infections, lung problems, and stroke.
Treatments developed over the past three decades have led to the doubling of the life expectancy of sickle cell disease patients between 1972 and 2002. These treatments include medications, blood and bone marrow transfusions, and other procedures to relieve or prevent complications. Until now, however, scientists could not directly target processes known to affect the severity of sickle cell disease.
Ninth Cooley's Anemia Symposium
Sponsored by the Cooley's Anemia Foundation and the New York Academy of Sciences
Thanks to scientific advances, individuals with thalassemia, a group of genetic blood disorders which includes Cooley's Anemia, are now living into their 40's and 50's. Not only are individuals living longer, but their quality of life has increased. Scientific and clinical advancements have resulted in new iron-chelating drugs, early detection of organ failure, an understanding of adult complications associated with living with thalassemia (osteoporosis, heart failure, growth hormone defi ciency, pulmonary hypertension, and in fertility) and promising progress towards the ultimate magic bullet, a cure in the form of bone marrow and cord blood transplants, or gene therapy.
The symposium will integrate basic science and clinical research so that both scientists and clinicians can develop a mutual understanding of recent progress in thalassemia. Patients are also welcome to attend the symposium and are eligible for discounted prices. Please email info@cooleysanemia.org or call 800. 522.7222 for more information.
For conference brochure including full agenda, please click here.
Scientific Organizing Committee:
Elliott Vichinsky, MD
Director, Hematology/Oncology
Children's Hospital and Research Center in Oakland, CA
Ellis Neufeld, MD, PhD
Associate Chief, Division of Hematology/Oncology
Children's Hospital Boston
Plenary Sessions on:
Iron Regulation and Metabolism
Gene Regulation and Therapy
Iron Overload and Chelation Therapy
Iron Imaging
New Advances in Stem Cell
Transplantation
New Therapy For Hemoglobin F
Cardiac Dysfunction
Nutrition and Antioxidant Therapies
Clinical Syndromes in Thalassemia and Disease Severity
The Adult Thalassemia Patient
CALL FOR ABSTRACTS
Deadline for abstract submission is Friday, August 14, 2009. For complete abstract instructions, please e-mail: cooleys@nyas.org. Type the words "Abstract Information" in the subject line - no need to type a message. Instructions will be forwarded automatically. Any questions, please call 212.298.8681.
Travel Fellowships may become available. Please return to this website for future updates.
For sponsorship opportunities please contact Sonya Dougal at sdougal@nyas.org or 212.298.8682.
The project described was supported by Award Number R13HL096359 from the National Heart, Lung, And Blood Institute. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Heart, Lung, And Blood Institute or the National Institutes of Health.
The Thalassemia Action Group (TAG), the only national patient support group for thalassemia patients, will host a one-day meeting in conjunction with this conference. The meeting, to be held on Saturday October 24th from 9:00 am to 5:00 pm, is intended for patients and family members in order to educate them on presentations and scientific advancements discussed during the symposium. It is a chance for patients to hear experts on thalassemia, ask questions and discuss the concerns that face those afflicted with thalassemia. For more information please visit www.cooleysanemia.org or email info@cooleysanemia.org. For information about registration to the TAG meeting please call 800.522.7222 (ext 205).
Dissemination Material
Listen to the eBriefing from the last Cooley's symposium at www.nyas.org/Cooleys
Read publications from our previous Cooley's Symposia at www.nyas.org/CooleysAnnals
Thanks to scientific advances, individuals with thalassemia, a group of genetic blood disorders which includes Cooley's Anemia, are now living into their 40's and 50's. Not only are individuals living longer, but their quality of life has increased. Scientific and clinical advancements have resulted in new iron-chelating drugs, early detection of organ failure, an understanding of adult complications associated with living with thalassemia (osteoporosis, heart failure, growth hormone defi ciency, pulmonary hypertension, and in fertility) and promising progress towards the ultimate magic bullet, a cure in the form of bone marrow and cord blood transplants, or gene therapy.
The symposium will integrate basic science and clinical research so that both scientists and clinicians can develop a mutual understanding of recent progress in thalassemia. Patients are also welcome to attend the symposium and are eligible for discounted prices. Please email info@cooleysanemia.org or call 800. 522.7222 for more information.
For conference brochure including full agenda, please click here.
Scientific Organizing Committee:
Elliott Vichinsky, MD
Director, Hematology/Oncology
Children's Hospital and Research Center in Oakland, CA
Ellis Neufeld, MD, PhD
Associate Chief, Division of Hematology/Oncology
Children's Hospital Boston
Plenary Sessions on:
Iron Regulation and Metabolism
Gene Regulation and Therapy
Iron Overload and Chelation Therapy
Iron Imaging
New Advances in Stem Cell
Transplantation
New Therapy For Hemoglobin F
Cardiac Dysfunction
Nutrition and Antioxidant Therapies
Clinical Syndromes in Thalassemia and Disease Severity
The Adult Thalassemia Patient
CALL FOR ABSTRACTS
Deadline for abstract submission is Friday, August 14, 2009. For complete abstract instructions, please e-mail: cooleys@nyas.org. Type the words "Abstract Information" in the subject line - no need to type a message. Instructions will be forwarded automatically. Any questions, please call 212.298.8681.
Travel Fellowships may become available. Please return to this website for future updates.
For sponsorship opportunities please contact Sonya Dougal at sdougal@nyas.org or 212.298.8682.
The project described was supported by Award Number R13HL096359 from the National Heart, Lung, And Blood Institute. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Heart, Lung, And Blood Institute or the National Institutes of Health.
The Thalassemia Action Group (TAG), the only national patient support group for thalassemia patients, will host a one-day meeting in conjunction with this conference. The meeting, to be held on Saturday October 24th from 9:00 am to 5:00 pm, is intended for patients and family members in order to educate them on presentations and scientific advancements discussed during the symposium. It is a chance for patients to hear experts on thalassemia, ask questions and discuss the concerns that face those afflicted with thalassemia. For more information please visit www.cooleysanemia.org or email info@cooleysanemia.org. For information about registration to the TAG meeting please call 800.522.7222 (ext 205).
Dissemination Material
Listen to the eBriefing from the last Cooley's symposium at www.nyas.org/Cooleys
Read publications from our previous Cooley's Symposia at www.nyas.org/CooleysAnnals
5/21/09
NIH Announces Funding Opportunity
The National Institutes of Health announced a new funding opportunity of interest to the thalassemia community on May 1, 2009. Below is information from that announcement.
Purpose. This Funding Opportunity Announcement (FOA) is a call for the application of imaging and other non- or minimally-invasive technologies to detect, characterize, diagnose, identify persons with predisposition to, or monitor treatment of diseases of interest to the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and the National Heart Lung and Blood Institute (NHLBI) of the National Institutes of Health (NIH). Also needed are new, robust surrogate markers for clinical trial endpoints, and new ways to characterize normal and pathological tissues in vivo. Diseases of interest include type 1 and 2 diabetes; acute and chronic kidney disease, liver, urologic, hematologic, digestive, endocrine, and metabolic diseases and their complications; obesity; obesity-related hypertension, hypertension, renal and vascular disorders leading to hypertension. Applicable techniques include molecular imaging and functional imaging approaches, imaging methods with high spatial, chemical or time resolution, metabolomics, proteomics, genomics, or new spectroscopic or sensor array technologies for monitoring metabolic or physiological events. Mechanism of Support. This FOA will utilize the NIH Research Project Grant (R01) award mechanism. Developmental/Exploratory Research (R21) applications within the scientific scope of the FOA can be submitted in response to the NIH Parent R21 PA, http://grants.nih.gov/grants/guide/pa-files/PA-09-164.html.
Non-Invasive Methods for Diagnosis and Progression of Diabetes, Kidney, Urological, Hematological and Digestive Diseases and Hypertensive Disorders (R01)
Purpose. This Funding Opportunity Announcement (FOA) is a call for the application of imaging and other non- or minimally-invasive technologies to detect, characterize, diagnose, identify persons with predisposition to, or monitor treatment of diseases of interest to the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and the National Heart Lung and Blood Institute (NHLBI) of the National Institutes of Health (NIH). Also needed are new, robust surrogate markers for clinical trial endpoints, and new ways to characterize normal and pathological tissues in vivo. Diseases of interest include type 1 and 2 diabetes; acute and chronic kidney disease, liver, urologic, hematologic, digestive, endocrine, and metabolic diseases and their complications; obesity; obesity-related hypertension, hypertension, renal and vascular disorders leading to hypertension. Applicable techniques include molecular imaging and functional imaging approaches, imaging methods with high spatial, chemical or time resolution, metabolomics, proteomics, genomics, or new spectroscopic or sensor array technologies for monitoring metabolic or physiological events. Mechanism of Support. This FOA will utilize the NIH Research Project Grant (R01) award mechanism. Developmental/Exploratory Research (R21) applications within the scientific scope of the FOA can be submitted in response to the NIH Parent R21 PA, http://grants.nih.gov/grants/guide/pa-files/PA-09-164.html.
Non-Invasive Methods for Diagnosis and Progression of Diabetes, Kidney, Urological, Hematological and Digestive Diseases and Hypertensive Disorders (R01)
8/25/08
Beta Thalassemia
What is beta thalassemia?
The most familiar type of thalassemia is beta thalassemia. It involves decreased production of normal adult hemoglobin (Hb A), the predominant type of hemoglobin from soon after birth until death. (All hemoglobin consists of two parts: heme and globin). The globin part of Hb A has 4 protein sections called polypeptide chains. Two of these chains are identical and are designated the alpha chains. The other two chains are also identical to one another but differ from the alpha chains and are termed the beta chains. In persons with beta thalassemia, there is reduced or absent production of beta globin chains.
What is the difference between thalassemia minor and major?
There are two forms of beta thalassemia. They are thalassemia minor and thalassemia major (which is also called Cooley's anemia).
Thalassemia minor:
The individual with thalassemia minor has only one copy of the beta thalassemia gene (together with one perfectly normal beta-chain gene). The person is said to be heterozygous for beta thalassemia.
Persons with thalassemia minor have (at most) mild anemia (with slight lowering of the hemoglobin level in the blood). This situation can very closely resemble that with mild iron-deficiency anemia. However, persons with thalassemia minor have a normal blood iron level (unless they have are iron deficient for other reasons). No treatment is necessary for thalassemia minor. In particular, iron is neither necessary nor advised.
Thalassemia major (Cooley's anemia):
The child born with thalassemia major has two genes for beta thalassemia and no normal beta-chain gene. The child is homozygous for beta thalassemia. This causes a striking deficiency in beta chain production and in the production of Hb A. Thalassemia major is, therefore, a serious disease.
The clinical picture associated with thalassemia major was first described in 1925 by the American pediatrician Thomas Cooley. Hence, the name Cooley's anemia in his honor.
At birth the baby with thalassemia major seems entirely normal. This is because the predominant hemoglobin at birth is still fetal hemoglobin (Hb F). Hb F has two alpha chains (like Hb A) and two gamma chains (unlike Hb A). It has no beta chains so the baby is protected at birth from the effects of thalassemia major.
Anemia begins to develop within the first months after birth. It becomes progressively more and more severe. The infant fails to thrive (to grow normally) and often has problems feeding (due to easy fatigue from lack of oxygen, with the profound anemia), bouts of fever (due to infections to which the severe anemia predisposes the child) and diarrhea and other intestinal problems.
What is Mediterranean anemia?
The gene for beta thalassemia is not evenly distributed among peoples. It is, for example, relatively more frequent in people of Italian and Greek origin, both of which are peoples from the Mediterranean. Because of this, thalassemia major has been called Mediterranean anemia.
The name thalassemia was coined at the University of Rochester in upstate New York by the Nobel Prize-winning pathologist George Whipple and the professor of pediatrics William Bradford from the Greek thalassa for sea and -emia, meaning the blood. Thalassemia means "sea in the blood." But for the Greeks, the sea was the Mediterranean, so thalassemia also conveys the idea of the Mediterrranean in the blood.
The reason that the gene for beta thalassemia is relatively common, for example, among people of Italian and Greek origin is that parts of Italy and Greece were once full of malaria. The presence of thalassemia minor (like sickle cell trait in Africa) afforded protection against malaria, and therefore, this gene thrived.
What is the genetic pattern of inheritance of beta thalassemia?
The pattern of genetic transmission of beta thalassemia (and sickle cell disease) was deciphered by James V. Neel when he was at the University of Rochester (he later went to Michigan). Dr. Neel recognized that the parents of children with thalassemia major had thalassemia minor with one beta thalassemia gene. When these parents had children, they have a 25% chance of having a thalassemia major child (with both genes for beta thalassemia), a 50% chance of having children with thalassemia minor (with only one gene for beta thalassemia), and a 25% chance of having a child without thalassemia major or minor (with both genes for normal beta chains). This form of inheritance is medically referred to as an autosomal recessive pattern.
The diagnosis of thalassemia major and minor
Persons with thalassemias have smaller sized red blood cells than normals as well as low red blood cell counts (anemia). Thalassemia major and thalassemia minor can now be diagnosed (and distinguished from one another) not only by conventional clinical and blood testing, but also by molecular medical tests. These tests permit accurate diagnosis to be made at any time, even before birth (in fact, well before the beta chain machinery is fired up to make beta chains for hemoglobin).
The treatment of thalassemia major
Infants with thalassemia major are well at birth because of a special form of hemoglobin present in the fetus and newborn. Eventually, however, this hemoglobin is replaced by defective hemoglobin. Symptoms emerge late in the first year of life. The child develops pale skin, irritability, growth retardation, swelling of the abdomen due to enlargement of the liver and spleen (hepatosplenomegaly) with jaundice. This is associated with severe anemia with rupture of the red blood cells (hemolytic anemia). The child with thalassemia major becomes dependent on blood transfusions and, although they do help, they create further problems including iron overload. Folic acid supplementation is often given. At this time, there is only treatment for relieving the symptoms of the illness for thalassemia major. Gene therapy remains a potential treatment for the future.
The long-term hope is that thalassemia major will be cured by insertion of the normal beta-chain gene through gene therapy or by another modality of molecular medicine
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