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.
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)
Subscribe to:
Posts (Atom)