Thalassemia continues to pose a serious public health challenge in India, with thousands of children dependent on lifelong blood transfusions and careful monitoring. While advances in screening and treatment have improved survival and quality of life, gaps remain in awareness, prevention and access to newer therapies. Hemant Kumar Rout discusses the evolving landscape of thalassemia management with Prof Rabindra Kumar Jena, director of clinical haematology, BMT and cellular therapy at Utkal Hospital, Bhubaneswar. Edited excerpts:
Blood disorders are often underdiagnosed in India. What are the most common haematological conditions you see in the country?
It’s true that the blood disorders are under-diagnosed across the country despite its incidence being highest among all the disciplines. About 60% of the Indian population suffer from anaemia as per the latest National Family Health Survey (NFHS-V).
Genetic blood diseases like sickle cell disease and thalassemia constitute about 3-8% and 3-4% of the Indian population respectively as per the latest data generated by National Sickle Cell Anaemia Elimination Programme (NSAEP). Platelet disorders including ITP, coagulation disorders like Haemophilia, haematological cancer like leukaemia, myeloma and lymphoma etc are also seen commonly in the country.
How serious is the burden of thalassemia?
About 10,000-15,000 infants are born with thalassemia major annually who require regular blood transfusion and other medication for survival.
On an average Rs 2 lakh is spent per annum for optimal management of each thalassemia child. In addition, the loss of working days by parents adds on leading to tremendous socio economic burden.
Why do patients often report late and what are the warning signs people usually ignore?
Lack of awareness, inadequate health infrastructure in certain regions and un-supportive family are main causes of late reporting.
Anaemia, weakness, swelling of abdomen due to enlargement of spleen and liver, jaundice, delayed physical development in child and similar health conditions with other siblings are major warning signs.
What are the long-term complications in untreated or poorly managed patients?
Every organ can be affected in thalassemia major patients due to excess deposit of iron and persistent anaemia. Bony abnormalities, malfunction of liver, kidney, endocrine organs, heart, nervous system and skin colouration are long term complications.
Can thalassemia be prevented?
Yes, it can be prevented by preventing the birth of a major child or by curing the existing gene abnormalities.
Families can go for detection of carriers and counselling to avoid marriage among carriers. One carrier can marry a normal counterpart, but marriage between two carriers should be avoided.
Identification of abnormalities of the foetus at 14-16 weeks of pregnancy through genetic study is important.
If thalassemia is diagnosed, allogeneic BMT should be carried preferably below 10 years of age to correct the genetic abnormalities. Gene therapy is also emerging as an alternative curative option.
How effective are antenatal screening and genetic counselling in preventing thalassemia major births?
Very much effective and probably the only practical preventive measure available at present. It should be available free of cost in every district headquarters hospital so that a pregnant woman can avail this facility at her nearby hospital without travelling a long distance.
Should premarital screening be made mandatory in India?
Premarital screening should be widely available and acceptable by persistent and aggressive counselling and advocacy. Given the alarming rate of prevalence, the government may go for mandatory screening.
Are lifestyle-related blood disorders increasing in India?
Yes, lifestyle-related blood disorders and associated non-communicable diseases (NCDs) are increasing at an alarming rate in India, driven by rapid urbanisation, increasing life expectancy, inter-caste marriages, sedentary habits, poor diet and high-stress levels. Healthy lifestyle and holistic healthcare can lessen the burden.
Are we moving toward precision medicine in blood disorders?
Yes, we have many options, which can be tried on patients depending on their respective conditions and factors. Thalidomide, known for its immunomodulatory properties, has shown encouraging results in reducing transfusion dependence by increasing foetal haemoglobin production.
There can be encouraging response in 60-70% of cases. Recently, the US FDA has approved a new oral pill - Mitapivat. With an efficacy rate of 40-50%, it has demonstrated significant ability to reduce dependence on blood transfusions.
How promising is stem cell transplantation in India?
Stem cell transplantation is witnessing a revolution in India. More and more centres are undertaking this procedure by qualified haematologists / BMT physicians. This is going to change the landscape of thalassemia care for sure.
What research gaps need urgent attention?
Collaboration among different institutions / haematologists, funding support and encouragement by the both the Centre and state governments and institutional management are the key in improving the research programmes.
Where do you see thalassemia care in the next 10 years?
Thalassemia care is set for a sea change in next one decade with unprecedented awareness, increased fund allocation in the health sector and opening of new haematology centres equipped with advanced treatment options, including BMT and gene therapy. Patients will have more treatment options, but prevention through awareness should be the target.