Digital Desk : 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. In this procedure child is admitted for 1 month in hospital in a special room and conditioning chemotherapy is given to finish old bone marrow and then new healthy bone marrow is infused from a fully matched donor. New bone marrow cells start making new blood after 3 weeks and gradually immunity recovers over next 6-12 months. Most children are off all medications usually 1 year post BMT. Few complications of BMT are infections, graft vs host disease, rejection of donor cells and organ dysfunction.
There is usually no risk to donor. Bone marrow can be collected from the donor either directly from bone under anaesthesia or from blood after stimulating bone marrow with daily granulocyte colony stimulating factor. Usually fully matched sibling donor is the best donor. If BMT is done before 5-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 BMT can performed from parent as donor as parents are always half-matched to their child.
Lack of awareness and cost are barriers to access to BMT for Thalassemia patients. To overcome this Government of India has started Thalassemia Bal Seva Yojna (TBSY) in which COAL INDIA LTD is paying Rs 10 lakh per child undergoing Bone marrow transplant for Thalassemia major. COAL INDIA LTD. has signed up Memorandum of understanding with 17 BMT centres across India including Medanta hospital in Gurugram. So far more than 600 children have benefited from this scheme and have undergone BMT for Thalassemia. Children eligible under this scheme should be suffering from Thalassemia major, aged < 10 years, family income < Rs 8 lakh per annum and a fully matched sibling donor should be available. Thalassemics India is an NGO which is actively involved in raising awareness about BMT for Thalassemia by organising screening camps and free HLA typing with the help of DKMS India.
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.
0 Comments