For nearly a decade, Rohit spent his childhood in hospital wards instead of playgrounds. Diagnosed with beta thalassemia major at just six months of age, he needed blood transfusions before he could even walk. Every three to four weeks, his family had to arrange blood, travel long distances and bear mounting medical expenses.
Son of a private company employee from Solapur in Maharashtra, he suffered all through as weakness, stunted growth and frequent infections became part of his early memories. He had already undergone over 10 years of uninterrupted transfusion therapy by the time he was 12.
“When he came to us, his iron levels were extremely high and both the liver and spleen were significantly enlarged because of years of transfusions,” said Dr Raghuram CP, senior consultant in paediatric haematology, oncology and bone marrow transplantation (BMT) at Aster RV Hospital, Bengaluru.
After months of careful preparation to reduce iron toxicity and stabilise his condition, the medical team planned a bone marrow transplant. The donor was his elder sister, who stepped forward just before her own marriage. “We first had to aggressively manage the iron overload with medications and injections before we went for the transplant. Now he is completely transfusion-free. He is going to school and doing well,” said Dr Raghuram, who treated the child.
Rohit’s story mirrors that of thousands of children across the country, where thalassemia remains one of the most serious inherited blood disorders. India is estimated to have over one lakh to 1.5 lakh patients living with thalassemia major, while nearly 42 million people are carriers of the thalassemia trait. Every year, around 15,000 children are born with thalassemia.
Early warning signs often missed
Thalassemia is a common inherited haemoglobin disorder caused by mutations in the alpha and beta globin genes, resulting in impaired haemoglobin synthesis and ineffective erythropoiesis. Symptoms typically appear between six months and two years of age in its severe form. Parents can notice persistent pallor, excessive tiredness, irritability and poor feeding.
As anaemia worsens, children can develop jaundice, dark urine and enlargement of the spleen and liver, leading to abdominal swelling. Delayed growth and puberty are also common in untreated or poorly managed cases. Although lifesaving, repeated transfusions can result in iron overload that damages the heart, liver and endocrine glands if not controlled. Individuals with thalassemia minor often show mild anaemia or no symptoms at all.
Several studies estimate that about 3-4% of Indians carry thalassemia traits. Without systematic screening, many couples, who may unknowingly pass the defective gene to the next generation, discover their carrier status only after the birth of an affected child. “When two carriers marry, there is a 25% chance in every pregnancy that the child will have thalassemia major, 25% minor and 50% carrier. In beta thalassemia major, the most severe form, children cannot produce adequate healthy haemoglobin, necessitating blood transfusion,” said Dr PK Sasidharan, a senior haematologist from Kerala.
WHO identifies thalassemia as a major health issue, with over 40,000 births annually affected by beta thalassemia, about 25,500 of which are transfusion-dependent beta thalassemia (TDT). The burden is unevenly distributed in India, with higher carrier frequencies observed in certain communities and regions, where prevalence is to 8-10% or more. According to the ICMR 2022 Atlas of Hemoglobinopathies, India records 10,000-12,000 births with severe hemoglobinopathies annually, with beta thalassemia major forming a substantial proportion.
Diagnosis & treatment
Diagnosis begins with a complete blood count (CBC), which typically reveals low haemoglobin levels and small-sized red blood cells. The key differentiator is haemoglobin electrophoresis or high-performance liquid chromatography (HPLC), which identifies abnormal haemoglobin variants. Genetic testing can further confirm the specific mutation, especially in complex cases or during prenatal diagnosis. “The cornerstone of treatment is regular blood transfusion therapy, usually every three to four weeks, to maintain adequate haemoglobin levels and support normal growth. However, repeated transfusions lead to iron accumulation in vital organs. Iron chelation therapy, administered orally or through injections is therefore essential to remove excess iron and prevent complications,” said Dr Raghuram.
In recent years, hematopoietic stem cell transplantation (HSCT) and gene therapy have emerged as promising frontiers. By correcting or compensating for the defective gene, gene therapy eliminates the need for lifelong transfusions.
“The only established curative treatment at present is HSCT, commonly known as bone marrow transplant (BMT). When performed with a matched sibling donor (MSD), success rates are high. Else, matched unrelated donor (MUD) stem cells can be obtained from stem cell registries available in some cities. Half matched stem cell transplant, known as haploidentical transplant, is another option for patients who do not have either a MSD or MUD,” said Dr Priyanka Samal, professor of clinical haematology, haemato-oncology, BMT and Cellular Therapy at IMS & SUM Hospital, Bhubaneswar.
Protecting the next generation
Since breaking the cycle of thalassemia transmission requires a multi-pronged approach, public health experts advocate mandatory or universal screening in high-prevalence areas, integration of thalassemia testing into routine antenatal care and awareness campaigns in high risk regions to identify carriers early.
Given that thalassemia is inherited, prevention through screening remains the most effective strategy. “Premarital and pre-conception screening can identify carriers before marriage or pregnancy. At risk couples must go for an early screening during pregnancy by opting for prenatal diagnostic tests such as chorionic villus sampling or amniocentesis to determine whether the foetus is affected,” said Dr Tuphan Kanti Dolai, head of Haematology department at NRS MCH, Kolkata.