Dr Sharat Damodar MD, DNB, DM
Senior Consultant Haematologist and Head of Haematology & Bone Marrow Transplant
Clinical Director, MSMC
Vice Chairman, NH Oncology Collegium
Mazumdar Shaw Medical Center, Narayana Health City, BENGALURU
Secretary – Karnataka Chapter ISHBT
What is thalassemia? Is it hereditary? If a couple has one child with thalassemia major, what are the chances of having another one with this disorder? Is it preventable?
Thalassemia major is a genetic disease in which there is a defect in hemoglobin, resulting in reduction of red blood cell production, leading to anemia from childhood. It is a hereditary condition which occurs when both parents have thalassemia minor. There is 25% chance of a child having thalassemia major, 50% chance of thalassemia minor and 25% chance of a normal child. Thalassemia is preventable by screening the population for thalassemia minor or trait, especially before marriage so that the couple is aware if both are carriers. This has already been implemented in countries such as Maldives and Greece.
Thalassemia is diagnosed using a test called hemoglobin electrophoresis. This should be done before the child has been transfused. If the child has already received blood transfusion then the thalassemia mutational analysis will confirm the diagnosis. It would also help to test the parents for confirmation. Thalassemia can also be diagnosed on the fetus between 8-10 weeks of pregnancy using antenatal diagnosis. The cost of these tests is approximately 25,000 to 30,000 INR.
Can a person with thalassemia major lead a normal life like any other person, e. g., study in school/college, do a job, get married, raise children, etc.?
A child with thalassemia can lead a normal life provided he or she gets regular blood transfusion to maintain the hemoglobin above 9gm% and is also on chelation therapy daily, to reduce the iron overload associated with repeated blood transfusions. They can study in school and college, get a job, get married and raise children.
What, in your opinion, is the best treatment approach for a child diagnosed with thalassemia major?
Early and correct diagnosis is important. Once this is established then regular blood transfusions and chelation therapy is very important. In addition, the growth of the child has to be monitored along with psychological and social support to the family.
Can you suggest some support groups (online or offline), NGOs or government agencies in your city/India that offer support to individuals with thalassemia?
Blood transfusion is free in all govt. hospitals. The TTK blood bank and Rashtrothama blood banks also provide free blood to all children with thalassemia. Groups such as Milaap provide social funding for children undergoing transplant.
Can thalassemia major be cured? Does stem cell or gene therapy have any role here? If yes, where can it be done and what is the cost involved?
The only curative treatment for thalassemia is a bone marrow transplant. The ideal donor is a HLA identical sibling or a fully matched unrelated donor. Gene therapy trials are yielding promising results but have not reached therapeutic utility yet. There are numerous centers offering bone marrow transplants in the country with costs ranging from 10 to 12 lakh rupees. Our center is one of the larger centers in the country offering bone marrow transplants.
Are you aware of any thalassemia clinical research trials currently going on in our country?
The trials have not yet started but are in the pipeline.
What is the one advice that you would like to give to the parents having children with thalassemia major?
If the parents already have a child with thalassemia they should make sure they should not have another affected child. Hence, antenatal screening is very important. The next step is to take good care of the child having thalassemia with transfusions and chelation therapy.
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