Thalassemia in India

April 10, 2025

Thalassemia is a global health concern. Each year, 300,000 to 400,000 babies are born with severe haemoglobin disorders. These conditions arise from genetic mutations affecting haemoglobin production. Thalassemia leads to reduced or abnormal haemoglobin, resulting in anaemia.

Types of Thalassemia

Thalassemia is categorised into two main types – Alpha and Beta.
Alpha thalassemia occurs due to mutations affecting alpha globin production. It is prevalent in Southeast Asia, the Middle East, and Africa.
Beta thalassemia affects beta globin production and is commonly found in Mediterranean populations.
Each type has subtypes, including thalassemia major and minor. Thalassemia major requires mutations from both parents, while thalassemia minor occurs when only one parent carries the mutation.

Symptoms and Diagnosis

Symptoms of thalassemia major include severe anaemia, fatigue, and delayed growth. Diagnosis involves blood tests, including a full blood count and High-Performance Liquid Chromatography (HPLC). Low haemoglobin levels and specific markers indicate the presence of thalassemia. Genetic testing can further identify the mutation.

Management Options

Managing thalassemia involves several approaches. Regular blood transfusions are essential for maintaining healthy haemoglobin levels. However, they lead to iron accumulation in the body, necessitating iron chelation therapy. Bone marrow transplantation offers a potential cure if a compatible donor is available. Gene therapy is an emerging treatment that repairs or replaces defective genes but is currently expensive and primarily available abroad.

Impact in India

In India, beta thalassemia and sickle cell disorders represent health burden. Approximately 3-4% of the population are carriers, resulting in millions of individuals at risk. Certain ethnic groups exhibit even higher carrier rates. Carrier rates are not uniform across regions, even within the same state. Micro-mapping helps identify such variations.

Prevention Strategies

Preventive measures are crucial in managing thalassemia in India. A National Thalassemia Control Programme promotes awareness and testing for carrier states. Public education initiatives can encourage testing before marriage or during early pregnancy. Antenatal diagnosis is possible through chorionic villus sampling, allowing for early intervention.

Current Research and Future Prospects

Ongoing research aims to enhance treatment options and reduce costs associated with gene therapy. Advances in technology may facilitate the development of affordable therapies in India. Collaboration between government and NGOs is vital for improving healthcare access for affected individuals.

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