• Source:JND
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Thalassemia is a hereditary blood disorder caused by mutations in the genes responsible for haemoglobin production. The most severe form, beta-thalassemia major, leads to chronic anaemia, organ damage, and a lifelong dependency on blood transfusions and iron chelation therapy. It severely affects the quality of life and life expectancy of those affected. In a conversation with Jagran English, Dr. Smita Hiras Sudke, Regional Chief of the Lab (Pune & ROM) at Metropolis Healthcare Ltd., spoke about the importance of prenatal testing for thalassemia.

According to Dr. Smita Hiras Sudke, prenatal testing plays a vital role in identifying the risk of thalassemia in unborn children. It enables couples to make informed decisions about their pregnancy and the health of their future child. Around 4.5% of the global population carries an abnormal haemoglobin gene, with about 300,000 babies born annually with significant haemoglobin disorders. Countries like Cyprus and Iran have successfully reduced thalassemia major births through national screening programs, including premarital and prenatal testing.

India faces a significant burden, with an estimated 30 million silent carriers of β-thalassemia. While carriers are typically healthy, if both partners are carriers, there is a 25% risk in each pregnancy of having a child with thalassemia major. India accounts for about 10% of global thalassemia major cases, with 65,000–67,000 patients and 10,000–15,000 new cases added annually.

The only cure—bone marrow transplantation—is limited by cost, availability of centres, and the lack of suitable donors. Therefore, lifelong transfusions and chelation remain the primary treatment, placing a heavy burden on patients and the healthcare system. Prevention is the most effective strategy. Mass screening programs in schools, pre-marital counselling, and antenatal screening between the 10th and 12th weeks of pregnancy are essential. Identifying carriers early allows couples to consider options such as prenatal diagnosis and genetic counselling, added Dr. Smita Hiras.

Finally, Dr. Smita Hiras Sudke stated that thalassemia is a lifelong condition, yet it is one of the few genetic disorders that can be largely prevented through awareness and timely screening. Integrating prenatal testing into routine antenatal care and expanding its reach in underserved areas is critical. With informed choices and proactive screening, we can significantly reduce the burden of thalassemia. As the saying goes: “Prevention is better than cure.” In the case of thalassemia, prevention through prenatal screening is not only better but also vital.