Categories: Haematology

Thalassemia: A Genetic Blood Disorder

Thalassemia is an inherited blood disorder which manifests early in childhood, usually in the first year itself. It is a disease caused by gene abnormality resulting in abnormal formation of haemoglobin- the oxygen carrying protein of Red Blood Cells in the blood. As a result the red blood cells are inefficient and their life span is often short. Hence, the patients require frequent and life-long blood transfusions to survive. But it is heartening that though 10-12,000 children are diagnosed with thalassemia each year, less than 10% of patients in India are managed as per internationally-recommended guidelines which include safe blood transfusion on time, effective iron- chelation and multidisciplinary care in a comprehensive thalassemia care centre.
However, according to Dr. Sunil Bhat, Consultant, Haemato – Oncology of Narayana Health, there are certain challenges to the treatment. The requirement for packed red cells in India is approximately 2 million units, and demand constantly outstrips supply. Also, blood is a potential medium for transmission of infection so it is vital to have blood tested for infection so that it is safe for transfusion. Secondly, repeated transfusions cause iron overload in the vital organs as liver, heart and endocrine glands which is removed by chelation. However, despite available medication less than 10% of patients are adequately chelated.
Thalassemia is a multi-system problem and requires a multidisciplinary-team approach to care. Bone Marrow Transplant (BMT) offers more than 90% success rate in patients with HLA-matched sibling donors. But lack of awareness about the procedure, affordability and very few BMT centres are certain barriers to this treatment procedure. To overcome these challenges, the Union Government must initiate and encourage regional centres for thalassemia management, provide iron chelation medicines at affordable rates, do regular blood donation drives, introduce newer methods like NAT testing for blood to minimise infection risk, nation- wide screening for thalassemia carriers & antenatal testing during pregnancy and creating awareness about BMT.
NH has a state-of-the-art Hematopoietic Stem Cell Transplant/Bone Marrow Transplant Unit. The Bone Marrow Transplant (BMT) unit is housed in the Mazumdar Shaw Medical Center (MSMC) building at NH Health City, Bangalore. The BMT unit has completed over 395 stem cell transplants till date – which is one of the largest in India and the highest in Karnataka with excellent results. Of the 395 transplants performed, 292 were Allogeneic (that includes matched siblings, matched unrelated, cord blood, 18 haplo-identical transplants) and 103 Autologus transplants.

A cord blood banking facility in collaboration with Rotary International, which functions both as a public and private cord blood facility is also operational. With a large number of cord blood units being available in our country, cord blood transplants can be offered to a large number of patients who do not have HLA matched sibling donors.

Narayana Health

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