Dr Satya Prakash Yadav
Thalassemia major is a genetic blood disorder where children are dependent on lifelong blood transfusions to survive. It’s a haemoglobin disorder where child is unable to make beta globin chains which are needed to make haemoglobin.
We all have two beta-globin genes which make globin chains but in children with thalassemia both beta globin genes are mutated leading lack of proper haemoglobin and thus needing blood transfusions. In India more than 10,000 children are born every year with thalassemia and at present we have lakhs of such patients who all need monthly blood transfusions and supportive care to survive. There is need for permanent curative therapies.
Bone marrow transplant (BMT) from a healthy unaffected donor is a permanent curative option. Usually fully matched sibling donor is the best donor. If BMT is done before 10-years of age from a matched sibling then success is 90%. If matched sibling donor is not available then search for a matched unrelated donor can be done from national and international donor registries. If donor is found then matched unrelated donor BMT can be performed with success around 80%. Other upcoming donor options are half matched family donors (haploidentical donors) where we can performed BMT from parent as donor as parents are always half-matched to their child.
Another new curative treatment recently approved in USA and Europe is called gene therapy for Thalassemia. In this therapy patient own bone marrow is taken out and taken to lab and beta-globin gene inserted by using a virus as vector and these bone marrow cells with functional beta globin gene are given back to patient after giving chemotherapy. This lead to full recovery and child is free of blood transfusions. Another technique where in place of virus we use CRISPER-cas technique to change the genetic code is called gene editing. Gene editing has been successful in curing thalassemia. Both gene therapy and gen editing therapies for thalassemia are at present available only in USA and Europe and very expensive costing > $ 2 million. Indian researchers have already found initial success in developing our own CRISPER-cas system and hopefully gene editing clinical trials would start in India in near future.
(The author is Director- Pediatric Hemato-oncology & BMT Medanta The Medicity, Gurgaon)
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