Your options
• Have your baby's cord blood collected and sent to a private cord blood bank or a public cord blood bank.
• Do not bank or donate your baby's cord blood.
Key points to remember•
Doctors do not recommend that you bank cord blood on the slight chance that your baby will need stem cells someday. If your baby were to need stem cells, he or she would probably need stem cells from someone else rather than his or her own stem cells.1
• Although privately banked cord blood is not likely to help your baby, it may help a sibling who has an illness that could be treated with a stem cell transplant. These include leukemia, sickle cell disease, Hodgkin's lymphoma, and thalassemia. Doctors recommend that you bank your baby's cord blood only if a family member already has one of these illnesses.
• You might consider donating the cord blood to a public bank instead. You probably won't be able to use the blood, but it could be used for research or for another child.
• Private cord blood banking is expensive. You will pay a starting fee of about $1,000 to $2,000, plus a storage fee of around $100 a year for as long as the blood is stored.
• If you want to save the cord blood, you must arrange for it ahead of time. It is not a decision you can make at the last minute.
• Collecting the cord blood does not cause pain.
What is umbilical cord blood?
Cord blood is the blood left in the umbilical cord after birth. It contains stem cells. These cells have the amazing ability to grow into many different kinds of cells, like bone marrow cells, blood cells, or brain cells. This can make them valuable for treating some diseases.
Diseases that can be treated with stem cell transplants include leukemia, Hodgkin’s disease, and some types of anemia. When healthy stem cells are transplanted into a child who is ill, those cells can grow new bone marrow cells to replace the ones destroyed by the disease or its treatment. Stem cells from the child's own cord blood often cannot be used, because they may have led to the disease in the first place.
Much research is being done to see if stem cells can be used to treat more problems. For now, though, treatment is limited to diseases that affect blood cells.
Cord blood kept in a private bank is usually used to treat disease in a brother or sister. Cord blood stem cells are rarely used to treat adults, who normally need more stem cells than cord blood has.
What is cord blood banking?
The umbilical cord is usually thrown away after birth. But the blood inside the cord can be saved, or banked, for possible later use. The blood is drawn from the umbilical cord after the cord has been clamped and cut. Cord blood banks freeze the cord blood for storage.
You may save your baby's cord blood in a private bank or donate it to a public bank. Private banks charge a fee to store cord blood for your family's use. If you donate the cord blood to a public bank, the cord blood can be used by anyone who needs it.
During your pregnancy, you may get ads or brochures from private cord blood banks. Some of them suggest that parents should save the cord blood in case the baby should one day need a stem cell transplant. Be wary of banks that urge cord blood banking for this reason. It is not known how likely a child is to need a transplant of his or her own cells, but experts say the chances are very small.1
Private cord blood banks have collected hundreds of thousands of cord blood samples. But the blood has been used in only a small number of transplants.2 Most transplants of cord blood stem cells use cord blood donated by others to public banks.
One reason why donations to public cord banks are so valuable is that stem cells from cord blood do not need to be as perfectly matched for a transplant as do stem cells from adult bone marrow. Stem cells from cord blood are not as mature, so the transplant patient's body is much less likely to reject them.
What are the risks of cord blood banking?
Collecting a baby’s cord blood is quick and does not cause pain. But it does have a small risk. The umbilical cord must not be clamped and cut too soon. Clamping as soon as possible increases how much blood is collected. But if it is done too quickly, it could cause the baby to have less blood. This could lead to anemia.
It is very unlikely that anyone in your family will ever need your baby's cord blood. The only people likely to use privately banked blood are those who already have a child with an illness that could be treated with cord blood from a baby brother or sister.1
It costs money to store your baby’s cord blood. Private banks charge about $1,000 to $2,000 to start. Then you must pay yearly storage fees for as long as the blood is stored. The storage fees cost $115 to $125 a year. Health plans usually do not cover these costs. Only you can decide if the cost makes sense for you and your family.
Doctors worry that the advertising done by private cord blood banks may make some parents feel guilty if they do not want or cannot pay to store their baby’s cord blood. Pregnancy and childbirth are emotional times, so learn all you can ahead of time.
What other things should you consider?
The American Academy of Pediatrics says storing cord blood in a private bank without a medical reason is not wise. This group of doctors recommends that you consider it only if a family member has a disease that could be treated with a stem cell transplant.3
Some private blood banks will waive their fees for families who need the stem cells right away.
If you bank or donate your baby's cord blood, it will be tested for genetic and infectious diseases. What you learn from a genetic test can affect your life and that of your family in many ways.
• Learning that your child is likely to develop a serious disease can be scary or depressing. This information may also affect your relationships with other family members.
• If your child tests positive for a gene that will cause a disease, you may decide to use treatment, if available, to prevent the disease or to make it less severe. Although many treatments work well, others may be unproven or may even be dangerous.
• Some people worry that gene test results will make it hard to get insurance.
Private banking: If you decide to bank your baby's cord blood, make sure that the blood bank you use is approved by a reputable regulatory agency, such as the American Association of Blood Banks. Look for a bank that has tested and stored many cord blood samples and whose samples have been used successfully in transplants. Ask for a copy of the bank's policies and procedures.
Public banking: You may decide that you would like to donate your baby’s cord blood. Donating makes the stem cells available to others. It does not cost anything. Unfortunately, it is not yet an option in many communities. Call the hospital where you plan to give birth to find out if you can donate cord blood there.
Why might your doctor recommend banking your baby's cord blood?
Your doctor might recommend privately banking your baby's umbilical cord blood if:
• You have another child who has a disease that could be treated with a stem cell transplant.
Compare your options
Bank cord blood Bank cord blood
What is usually involved?
• Long before birth, you arrange to bank your baby's cord blood.
• The blood is drawn from the umbilical cord after the cord has been clamped and cut.
• A cord blood bank freezes the cord blood for storage.
What are the benefits?•
Cord blood in a private bank could be used for a sibling who has an illness that can be treated with cord blood from a baby brother or sister.
• Giving the blood to a public cord bank could help research or some other child who needs it.
What are the risks and side effects?
• If the cord is clamped and cut too soon, your baby may become anemic.
• Private cord banking costs a lot. Banks charge $1,100 to $1,750 to start storage, then fees of more than $100 a year.
• Cord blood is tested for diseases. You could find out about a gene that may one day give your child a disease. This news could affect health insurance and job options.
Don't bank cord blood Don't bank cord blood
What is usually involved?
• The umbilical cord is thrown away after birth.
What are the benefits?
• You save money by not putting blood in a private cord bank.
• You avoid the small risk that the cord could be clamped and cut too soon. With less blood, the baby may become anemic.
What are the risks and side effects?
• Your child could later get an illness that could have been treated with a stem cell transplant. But experts say the chance that a child will need a transplant of his or her own cells is very small.1
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7/23/10
Alpha thalassemia X-linked mental retardation syndrome
What is alpha thalassemia X-linked mental retardation syndrome?
Alpha thalassemia X-linked mental retardation syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males.
Males with alpha thalassemia X-linked mental retardation syndrome have intellectual disability and delayed development. Their speech is significantly delayed, and most never speak or sign more than a few words. Most affected children have weak muscle tone (hypotonia), which delays motor skills such as sitting, standing, and walking. Some people with this disorder are never able to walk independently.
Almost everyone with alpha thalassemia X-linked mental retardation syndrome has distinctive facial features, including widely spaced eyes, a small nose with upturned nostrils, and low-set ears. The upper lip is shaped like an upside-down "V," and the lower lip tends to be prominent. These facial characteristics are most apparent in early childhood. Over time, the facial features become coarser, including a flatter face with a shortened nose.
Most affected individuals have mild signs of a blood disorder called alpha thalassemia. This disorder reduces the production of hemoglobin, which is the protein in red blood cells that carries oxygen to cells throughout the body. A reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Rarely, affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, and fatigue.
Additional features of alpha thalassemia X-linked mental retardation syndrome include an unusually small head size (microcephaly), short stature, and skeletal abnormalities. Many affected individuals have problems with the digestive system, such as a backflow of stomach acids into the esophagus (gastroesophageal reflux) and chronic constipation. Genital abnormalities are also common; affected males may have undescended testes and the opening of the urethra on the underside of the penis (hypospadias). In more severe cases, the external genitalia do not look clearly male or female (ambiguous genitalia).
How common is alpha thalassemia X-linked mental retardation syndrome?Alpha thalassemia X-linked mental retardation syndrome appears to be a rare condition, although its exact prevalence is unknown. More than 200 affected individuals have been reported.
What genes are related to alpha thalassemia X-linked mental retardation syndrome?
Alpha thalassemia X-linked mental retardation syndrome results from mutations in the ATRX gene. This gene provides instructions for making a protein that plays an essential role in normal development. Although the exact function of the ATRX protein is unknown, studies suggest that it helps regulate the activity (expression) of other genes. Among these genes are HBA1 and HBA2, which are necessary for normal hemoglobin production.
Mutations in the ATRX gene change the structure of the ATRX protein, which likely prevents it from effectively regulating gene expression. Reduced activity of the HBA1 and HBA2 genes causes alpha thalassemia. Abnormal expression of other genes, which have not been identified, probably causes developmental delay, distinctive facial features, and the other signs and symptoms of alpha thalassemia X-linked mental retardation syndrome.
How do people inherit alpha thalassemia X-linked mental retardation syndrome?
This condition is inherited in an X-linked recessive pattern. The ATRX gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), one working copy of the ATRX gene can usually compensate for the mutated copy. Therefore, females who carry a single mutated ATRX gene almost never have signs of alpha thalassemia X-linked mental retardation.
A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
What other names do people use for alpha thalassemia X-linked mental retardation syndrome?• alpha-thalassemia/mental retardation syndrome, nondeletion type
• alpha thalassemia/mental retardation, X-linked
• alpha-thalassemia X-linked mental retardation syndrome
• ATRX syndrome
• ATR-X syndrome
• X-linked alpha-thalassemia/mental retardation syndrome
• XLMR-hypotonic face syndrome
Alpha thalassemia X-linked mental retardation syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males.
Males with alpha thalassemia X-linked mental retardation syndrome have intellectual disability and delayed development. Their speech is significantly delayed, and most never speak or sign more than a few words. Most affected children have weak muscle tone (hypotonia), which delays motor skills such as sitting, standing, and walking. Some people with this disorder are never able to walk independently.
Almost everyone with alpha thalassemia X-linked mental retardation syndrome has distinctive facial features, including widely spaced eyes, a small nose with upturned nostrils, and low-set ears. The upper lip is shaped like an upside-down "V," and the lower lip tends to be prominent. These facial characteristics are most apparent in early childhood. Over time, the facial features become coarser, including a flatter face with a shortened nose.
Most affected individuals have mild signs of a blood disorder called alpha thalassemia. This disorder reduces the production of hemoglobin, which is the protein in red blood cells that carries oxygen to cells throughout the body. A reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Rarely, affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, and fatigue.
Additional features of alpha thalassemia X-linked mental retardation syndrome include an unusually small head size (microcephaly), short stature, and skeletal abnormalities. Many affected individuals have problems with the digestive system, such as a backflow of stomach acids into the esophagus (gastroesophageal reflux) and chronic constipation. Genital abnormalities are also common; affected males may have undescended testes and the opening of the urethra on the underside of the penis (hypospadias). In more severe cases, the external genitalia do not look clearly male or female (ambiguous genitalia).
How common is alpha thalassemia X-linked mental retardation syndrome?Alpha thalassemia X-linked mental retardation syndrome appears to be a rare condition, although its exact prevalence is unknown. More than 200 affected individuals have been reported.
What genes are related to alpha thalassemia X-linked mental retardation syndrome?
Alpha thalassemia X-linked mental retardation syndrome results from mutations in the ATRX gene. This gene provides instructions for making a protein that plays an essential role in normal development. Although the exact function of the ATRX protein is unknown, studies suggest that it helps regulate the activity (expression) of other genes. Among these genes are HBA1 and HBA2, which are necessary for normal hemoglobin production.
Mutations in the ATRX gene change the structure of the ATRX protein, which likely prevents it from effectively regulating gene expression. Reduced activity of the HBA1 and HBA2 genes causes alpha thalassemia. Abnormal expression of other genes, which have not been identified, probably causes developmental delay, distinctive facial features, and the other signs and symptoms of alpha thalassemia X-linked mental retardation syndrome.
How do people inherit alpha thalassemia X-linked mental retardation syndrome?
This condition is inherited in an X-linked recessive pattern. The ATRX gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), one working copy of the ATRX gene can usually compensate for the mutated copy. Therefore, females who carry a single mutated ATRX gene almost never have signs of alpha thalassemia X-linked mental retardation.
A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
What other names do people use for alpha thalassemia X-linked mental retardation syndrome?• alpha-thalassemia/mental retardation syndrome, nondeletion type
• alpha thalassemia/mental retardation, X-linked
• alpha-thalassemia X-linked mental retardation syndrome
• ATRX syndrome
• ATR-X syndrome
• X-linked alpha-thalassemia/mental retardation syndrome
• XLMR-hypotonic face syndrome
7/20/10
Immunization in Children and Adults who have Thalassemia
General Recommendations
Children who have thalassemia trait should be treated and immunized in a manner identical to all other children. The United States Center for Disease Control (CDC) has recently published an immunization schedule for 1998. This schedule represents the latest recommendations of this United States Government body. Their recommendations cover Hepatitis B vaccination, to be completed in the first year of life. Diphtheria, tetanus, and pertussis vaccination initially completed in the first 18 months of life with booster vaccination between 4 and 6 years and an adult tetanus booster between 14 and 16 years. Haemophilus influenzae conjugate vaccination completed by 15 months. Polio vaccination completed by 4 to 6 years, the first two vaccine doses optionally being the Salk IPV killed vaccine followed by the Sabin live oral vaccine. Measles, mumps and rubella vaccination completed by the age of 4 to 6 years. Varicella vaccine is recommended before the age of 18 months.
Hepatitis A VaccineChildren who have thalassemia intermedia or thalassemia major receive the above vaccines. In addition transfused children who test negative for Hepatitis A should be immunized against this virus whether or not they have been infected with Hepatitis C. Infection with Hepatitis A after infection Hepatitis C can lead to fulminant disease. It is not know whether late infection with this virus can cause worse hepatitis in individuals co-infected with other hepatitis viruses or with severe hemosiderosis.
Pneumococcal Vaccination
All children are immunized against Streptococcus pneumoniae with the 23-valent pneumococcal polysaccharide vaccine prior to splenectomy and boosters given every five years if their pneumococcal immunoglobin titers are negative. The conjugate pneumococcal vaccine is now available and should be considered for infants who have the possibility of early splenectomy; children who have Hemoglobin H Constant Spring might fall into this category. Children who have sickle thalassemia syndromes such as Sickle Beta Zero Thalassemia and Sickle Beta Plus Thalassemia should also receive either the conjugate vaccine as infants or the polysaccharide vaccine if they are over two years old. All children should receive boosters if they have negative titers to Streptococcus pneumoniae.
Influenza Vaccine
All children who have thalassemia intermedia or major should receive the influenza vaccine beginning at the age of six months (split vaccine with a booster the first season). Children who have other risk factors should also receive this vaccine.
HIV Infected Children
Children who are immune suppressed with HIV viral infection should not receive live virus vaccines: Measles, Mumps, Rubella; Oral Polio Vaccine; Varicella Vaccine. Nor should their siblings receive these vaccines without medical management to prevent infection of the immunosuppressed child.
Recommendations for children infected with the human immunodeficiency virus (HIV):
• All routine inactivated vaccines (IPV, Hib, Hepatitis B, and DTaP) are recommended for all children.
• Children who are six months or older receive the influenza vaccine (split dose with booster during the first season).
• Children who are two years old or older receive pneumococcal vaccine.
• The MMR vaccine is recommended only for children infected with HIV who are not severely immune compromised.
• Live virus vaccines are contraindicated in all children who are infected with HIV with the above exception.
Children Receiving Intravenous Gamma Globulin
Children who are receiving intravenous gamma globulin (IVIG) have the possibility that live virus vaccines will be inactivated or that they will not develop immunity.
Children After Bone Marrow Transplantation
Centers performing bone marrow transplantation each have their own preferred schedule for reimmunization of their patients. These schedules should be followed. After immunocompentence is documented and all other immunizations are complete these children should receive the influenza vaccination annually.
Other VaccinesNew vaccines are being developed and will be available periodically. The Rotavirus Vaccine has recently been released and is not specifically indicated for children who have thalassemia.
The meningococcal vaccine is available, but is not generally recommended in most references. It would be indicated for splenectomized children and adults. This vaccine is not thought to be optimal and is not routinely administered at this center.
Children who have thalassemia trait should be treated and immunized in a manner identical to all other children. The United States Center for Disease Control (CDC) has recently published an immunization schedule for 1998. This schedule represents the latest recommendations of this United States Government body. Their recommendations cover Hepatitis B vaccination, to be completed in the first year of life. Diphtheria, tetanus, and pertussis vaccination initially completed in the first 18 months of life with booster vaccination between 4 and 6 years and an adult tetanus booster between 14 and 16 years. Haemophilus influenzae conjugate vaccination completed by 15 months. Polio vaccination completed by 4 to 6 years, the first two vaccine doses optionally being the Salk IPV killed vaccine followed by the Sabin live oral vaccine. Measles, mumps and rubella vaccination completed by the age of 4 to 6 years. Varicella vaccine is recommended before the age of 18 months.
Hepatitis A VaccineChildren who have thalassemia intermedia or thalassemia major receive the above vaccines. In addition transfused children who test negative for Hepatitis A should be immunized against this virus whether or not they have been infected with Hepatitis C. Infection with Hepatitis A after infection Hepatitis C can lead to fulminant disease. It is not know whether late infection with this virus can cause worse hepatitis in individuals co-infected with other hepatitis viruses or with severe hemosiderosis.
Pneumococcal Vaccination
All children are immunized against Streptococcus pneumoniae with the 23-valent pneumococcal polysaccharide vaccine prior to splenectomy and boosters given every five years if their pneumococcal immunoglobin titers are negative. The conjugate pneumococcal vaccine is now available and should be considered for infants who have the possibility of early splenectomy; children who have Hemoglobin H Constant Spring might fall into this category. Children who have sickle thalassemia syndromes such as Sickle Beta Zero Thalassemia and Sickle Beta Plus Thalassemia should also receive either the conjugate vaccine as infants or the polysaccharide vaccine if they are over two years old. All children should receive boosters if they have negative titers to Streptococcus pneumoniae.
Influenza Vaccine
All children who have thalassemia intermedia or major should receive the influenza vaccine beginning at the age of six months (split vaccine with a booster the first season). Children who have other risk factors should also receive this vaccine.
HIV Infected Children
Children who are immune suppressed with HIV viral infection should not receive live virus vaccines: Measles, Mumps, Rubella; Oral Polio Vaccine; Varicella Vaccine. Nor should their siblings receive these vaccines without medical management to prevent infection of the immunosuppressed child.
Recommendations for children infected with the human immunodeficiency virus (HIV):
• All routine inactivated vaccines (IPV, Hib, Hepatitis B, and DTaP) are recommended for all children.
• Children who are six months or older receive the influenza vaccine (split dose with booster during the first season).
• Children who are two years old or older receive pneumococcal vaccine.
• The MMR vaccine is recommended only for children infected with HIV who are not severely immune compromised.
• Live virus vaccines are contraindicated in all children who are infected with HIV with the above exception.
Children Receiving Intravenous Gamma Globulin
Children who are receiving intravenous gamma globulin (IVIG) have the possibility that live virus vaccines will be inactivated or that they will not develop immunity.
Children After Bone Marrow Transplantation
Centers performing bone marrow transplantation each have their own preferred schedule for reimmunization of their patients. These schedules should be followed. After immunocompentence is documented and all other immunizations are complete these children should receive the influenza vaccination annually.
Other VaccinesNew vaccines are being developed and will be available periodically. The Rotavirus Vaccine has recently been released and is not specifically indicated for children who have thalassemia.
The meningococcal vaccine is available, but is not generally recommended in most references. It would be indicated for splenectomized children and adults. This vaccine is not thought to be optimal and is not routinely administered at this center.
7/19/10
Gene therapy represents safe alternative to current cures for blood disorder β-thalassemia
Italian scientists pioneering a new gene transfer treatment for the blood disorder β-thalassemia have successfully completed preclinical trials, claiming they can correct the lack of beta-globin (β-globin) in patients' blood cells which causes the disease. The research, published in EMBO Molecular Medicine, reveals how gene therapy may represent a safe alternative to current cures that are limited to a minority of patients.
The disorder β-thalassemia, also known as Cooley's anemia, is caused when a patient cannot produce enough of the β-globin component of haemoglobin, the protein used by red blood cells to carry oxygen around the body. The lack of β-globin causes life threatening anemia, leading to severe damage of the body's major organs. The condition is most commonly found in Mediterranean, Middle Eastern and Asian populations
"Currently treatments are limited to lifelong regular blood transfusions, and iron chelation to prevent fatal iron overload. The alternative is bone marrow transplantation, an option open to less than 25% of patients," said Dr Giuliana Ferrari from the San Raffaele Telethon Institute for Gene Therapy in Milan. "Our research has focused on gene therapy: by transplanting genetically corrected stem cells we can restore haemoglobin production and overcome the disorder."
Diseases of the blood are good targets for gene therapy because it is possible to harvest stem cells from the patient's bone marrow. The team developed a tool to deliver the correct gene for β-globin into these harvested cells, a viral vector they called GLOBE.
The cells can then be genetically modified with GLOBE to restore hemoglobin production before being re-administered back into the patient via intravenous injections. The important focus of this work was not only to show that GLOBE can restore haemoglobin production in human cells, but that this genetic transfer-based approach does not impair the biological features of the cells and is not associated with any intrinsic risk for the human genome.
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This research is not only crucial for developing a cure for one disease, but as Dr David Williams from the Harvard Medical School says, it may advance the entire discipline of gene therapy research.
"This work represents the kind of translational studies that are required to move human investigations forward but are often difficult to fund and publish," said Williams. "Considering the inherent difficulties accompanying human research, studies like those reported in EMBO Molecular Medicine are extremely important for moving the field forward." As the Milan based team can now correct the defective production of beta-globin in patients' blood cells the next step will be to place the corrected cells back into the patient, a step which has already proven successful in mice.
Successful gene therapies are the results of very long studies and our research represents the most comprehensive pre-clinical analysis ever performed on cells derived from thalassemic patients" concluded Ferrari. "We believe this study paves the way forward for the clinical use of stem cells genetically corrected using the GLOBE vector."
Source EMBO Molecular Medicine
The disorder β-thalassemia, also known as Cooley's anemia, is caused when a patient cannot produce enough of the β-globin component of haemoglobin, the protein used by red blood cells to carry oxygen around the body. The lack of β-globin causes life threatening anemia, leading to severe damage of the body's major organs. The condition is most commonly found in Mediterranean, Middle Eastern and Asian populations
"Currently treatments are limited to lifelong regular blood transfusions, and iron chelation to prevent fatal iron overload. The alternative is bone marrow transplantation, an option open to less than 25% of patients," said Dr Giuliana Ferrari from the San Raffaele Telethon Institute for Gene Therapy in Milan. "Our research has focused on gene therapy: by transplanting genetically corrected stem cells we can restore haemoglobin production and overcome the disorder."
Diseases of the blood are good targets for gene therapy because it is possible to harvest stem cells from the patient's bone marrow. The team developed a tool to deliver the correct gene for β-globin into these harvested cells, a viral vector they called GLOBE.
The cells can then be genetically modified with GLOBE to restore hemoglobin production before being re-administered back into the patient via intravenous injections. The important focus of this work was not only to show that GLOBE can restore haemoglobin production in human cells, but that this genetic transfer-based approach does not impair the biological features of the cells and is not associated with any intrinsic risk for the human genome.
null
This research is not only crucial for developing a cure for one disease, but as Dr David Williams from the Harvard Medical School says, it may advance the entire discipline of gene therapy research.
"This work represents the kind of translational studies that are required to move human investigations forward but are often difficult to fund and publish," said Williams. "Considering the inherent difficulties accompanying human research, studies like those reported in EMBO Molecular Medicine are extremely important for moving the field forward." As the Milan based team can now correct the defective production of beta-globin in patients' blood cells the next step will be to place the corrected cells back into the patient, a step which has already proven successful in mice.
Successful gene therapies are the results of very long studies and our research represents the most comprehensive pre-clinical analysis ever performed on cells derived from thalassemic patients" concluded Ferrari. "We believe this study paves the way forward for the clinical use of stem cells genetically corrected using the GLOBE vector."
Source EMBO Molecular Medicine
Indian children with AIDS from infected blood transfusions
by Nirmala Carvalho
Children with thalassemia need blood transfusions for treatment. In five years it has happened to thousands of children. Inadequate controls in Indian blood banks. For Pascoal Carvalho, immunologist and member of the Pontifical Council for Life, the solution exists and costs 16 euros: "We want the NAT, but the government must give subsidies to those who can’t afford it."
Jaipur (AsiaNews) - Three children who suffer from thalassemia in Jodhpur in Rajasthan this week contracted HIV after blood transfusions required to treat the disease. It is not the first time that such cases occur in India. According to statistics, over the past five years thousands of children have fallen ill with AIDS after blood transfusion from the state blood bank.
Marwar Thalassemic Society says that in the last six months eight children have contracted HIV and hepatitis C for 43 additional transfusions of infected blood. The three children are in care at the Ummed Hospital which treats children with thalassemia free of charge. Hospital managers said they had scrupulously followed the guidelines of the National AIDS Control Organization. Both hospitals blood banks are testing to verify that the donated blood is healthy, but often this is not enough.
"Tests of blood cells are not adequate," Pascoal Carvalho, immunologist and member of the Pontifical Council for life tells AsiaNews. "We need the Nucleic Acid Testing (NAT), but since it has a very high cost it is not always done".
Performing NAT on the blood cost 1000 rupees (16 Euros) and in most cases the cheaper Elisa test is carried out: "The Elisa test" continues the doctor, "often fails to identify the HIV virus, especially since detects it only after the virus has been circulating in the donor’s blood for three months".
India’s health system is well aware of the technologies needed to solve the problem, but does not invest: "The government must urgently upgrade its monitoring system in blood banks. The problem of infection is even more tragic because they are poor families who use government blood banks.
For Pascoal Carvalho, the only positive note is that better therapies are being introduced to treat thalassemia. But the doctor calls the government on its responsibilities: "The instruments for Nat cost 400 thousand rupees (6700 million) and 1000 rupees each test, but poor patients can not afford it. Only the government can require that Nat be used in all hospitals and blood banks and provide subsidies for those who must take the test. Only then will we avoid similar tragedies in India. "
Fr. Antonio Grugni, PIME missionary and doctor in Mumbai, told AsiaNews about the health situation in India: "The number of poor in India is enormous and they can only afford public health, where there are few doctors for a huge amount of patients. You can not say that the government does nothing: the cure for tuberculosis and leprosy are free, for example. It is not true that in India there is no money. There are but are often misused by individual states".
Children with thalassemia need blood transfusions for treatment. In five years it has happened to thousands of children. Inadequate controls in Indian blood banks. For Pascoal Carvalho, immunologist and member of the Pontifical Council for Life, the solution exists and costs 16 euros: "We want the NAT, but the government must give subsidies to those who can’t afford it."
Jaipur (AsiaNews) - Three children who suffer from thalassemia in Jodhpur in Rajasthan this week contracted HIV after blood transfusions required to treat the disease. It is not the first time that such cases occur in India. According to statistics, over the past five years thousands of children have fallen ill with AIDS after blood transfusion from the state blood bank.
Marwar Thalassemic Society says that in the last six months eight children have contracted HIV and hepatitis C for 43 additional transfusions of infected blood. The three children are in care at the Ummed Hospital which treats children with thalassemia free of charge. Hospital managers said they had scrupulously followed the guidelines of the National AIDS Control Organization. Both hospitals blood banks are testing to verify that the donated blood is healthy, but often this is not enough.
"Tests of blood cells are not adequate," Pascoal Carvalho, immunologist and member of the Pontifical Council for life tells AsiaNews. "We need the Nucleic Acid Testing (NAT), but since it has a very high cost it is not always done".
Performing NAT on the blood cost 1000 rupees (16 Euros) and in most cases the cheaper Elisa test is carried out: "The Elisa test" continues the doctor, "often fails to identify the HIV virus, especially since detects it only after the virus has been circulating in the donor’s blood for three months".
India’s health system is well aware of the technologies needed to solve the problem, but does not invest: "The government must urgently upgrade its monitoring system in blood banks. The problem of infection is even more tragic because they are poor families who use government blood banks.
For Pascoal Carvalho, the only positive note is that better therapies are being introduced to treat thalassemia. But the doctor calls the government on its responsibilities: "The instruments for Nat cost 400 thousand rupees (6700 million) and 1000 rupees each test, but poor patients can not afford it. Only the government can require that Nat be used in all hospitals and blood banks and provide subsidies for those who must take the test. Only then will we avoid similar tragedies in India. "
Fr. Antonio Grugni, PIME missionary and doctor in Mumbai, told AsiaNews about the health situation in India: "The number of poor in India is enormous and they can only afford public health, where there are few doctors for a huge amount of patients. You can not say that the government does nothing: the cure for tuberculosis and leprosy are free, for example. It is not true that in India there is no money. There are but are often misused by individual states".
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