India accounts for approximately 25 per cent of the world’s β-thalassemia cases, with an estimated 42 million carriers nationwide. Every year, between 10,000 and 15,000 children are born with thalassemia major — the most severe form of the condition — requiring lifelong blood transfusions and intensive medical care.
What makes thalassemia particularly concerning is its uneven prevalence across different regions and communities. While the overall carrier rate in the general population is around 3.5 per cent, in certain tribal groups and ethnic communities it spikes dramatically. The Tharu community in Uttar Pradesh, for instance, records a β-thalassemia trait prevalence of 21.9 per cent, a figure that continues to alarm public health officials.
What is thalassemia?
Thalassemia is a hereditary (genetic) blood disorder that affects the body’s ability to produce haemoglobin, the iron-containing protein in red blood cells that carries oxygen from the lungs to the rest of the body. People with thalassemia either don’t produce enough haemoglobin or produce defective haemoglobin, which leads to anaemia — a condition marked by fatigue, weakness, and in severe cases, life-threatening complications.
Haemoglobin is made up of two kinds of protein chains:
Alpha (α) globin chains
Beta (β) globin chains
A normal adult haemoglobin molecule (called HbA) consists of two alpha and two beta chains.
Thalassemia occurs when there is a mutation or deletion in the genes that code for these globin chains. Depending on which chain is affected, it is classified as:
Alpha-thalassemia: Caused by mutations in one or more of the four genes responsible for making alpha chains.
Beta-thalassemia: Caused by mutations in one or both of the two genes responsible for beta chains.
Alpha-thalassemia:
Everyone has four alpha globin genes (two on each chromosome 16).
The severity depends on how many of these four genes are mutated:
One gene mutation: Silent carrier — no symptoms.
Two mutations: Alpha-thalassemia trait — mild anaemia.
Three mutations: Haemoglobin H disease — moderate to severe anaemia.
Four mutations: Hydrops fetalis — usually fatal before or shortly after birth.
Beta-thalassemia:
Everyone has two beta globin genes (one on each chromosome 11).
The severity depends on how many of these two genes are defective:
One gene mutation: Beta-thalassemia minor (trait) — usually asymptomatic or mild anaemia.
Two gene mutations:
Beta-thalassemia major (Cooley’s anaemia) — severe anaemia requiring regular blood transfusions.
Beta-thalassemia intermedia — moderate anaemia, may or may not need transfusions.
How is it inherited?
Thalassemia follows an autosomal recessive inheritance pattern. This means a child inherits one globin gene from each parent. If both parents are carriers, there is:
25 per cent chance the child will inherit both defective genes and have thalassemia major.
50 per cent chance the child will be a carrier.
25 per cent chance the child will inherit normal genes from both parents.
Without enough healthy haemoglobin, red blood cells become smaller, fewer and die early. This leads to chronic anaemia, forcing the bone marrow to overwork itself, which can cause bone deformities, enlarged spleen (splenomegaly), growth delays in children and iron overload from frequent transfusions damages the heart, liver and endocrine glands.
Current treatments
Regular blood transfusions (for thalassemia major)
Iron chelation therapy to remove excess iron
Bone marrow or stem cell transplant (the only potential cure)
Gene therapy — under research, showing promising early results
An expensive, lifelong battle
Managing thalassemia is both physically and financially taxing. Children with thalassemia major typically require blood transfusions every 2–4 weeks, coupled with iron chelation therapy to manage complications arising from iron overload. The annual cost of treatment can range from Rs 50,000 to Rs 2 lakh per child, placing a significant strain on families, many of whom struggle with out-of-pocket healthcare expenses.
Despite the heavy toll the disease takes, India still lacks a centralised national patient registry, hindering efforts to track and manage cases effectively. This absence of consolidated data impedes policymakers from allocating resources and planning healthcare interventions strategically.
Prevention remains the most viable solution
“Thalassemia is often misunderstood. It’s not something one can ‘catch’ — it’s passed silently through generations when both parents carry the defective gene. While carriers, or those with Thalassemia Minor, can live normal lives without symptoms, a child born with Thalassemia Major faces a life of constant medical intervention. Children with Thalassemia Major require regular blood transfusions, often every few weeks, along with iron chelation therapy to remove excess iron that builds up from transfusions. The symptoms include chronic fatigue, weakness, pale or yellowish skin, delayed growth and bone deformities. Over time, complications can affect the heart, liver, and other organs,” commented Dr Himanshu Khan, consultant physician, ILS Hospitals.
Although bone marrow or peripheral blood stem cell transplantation may offer a cure in select cases, this treatment is expensive, not widely accessible, and requires a matched donor. Therefore, prevention becomes the most practical and powerful approach to controlling the spread of thalassemia.
“Mandatory thalassemia screening, especially before marriage, is strongly recommended. A simple, low-cost blood test known as Haemoglobin Electrophoresis can determine whether a person is a carrier of the thalassemia gene. If both partners are carriers, there is a 25 per cent chance with each pregnancy that their child will be born with Thalassemia Major. In a country with a high carrier population, especially in certain regions, premarital screening and genetic counselling can prevent the birth of affected children,” added Dr Khan.
On World Thalassemia Day (8 May), health experts in West Bengal raised concerns over the state’s disproportionately high prevalence of thalassemia, which surpasses the national average. Data from the West Bengal Health Department reveals that 6 per cent to 10 per cent of the state’s population are carriers of the disorder, compared to the national average of 3 per cent to 4 per cent, as recorded in the 2011 Census.
“We have an NABL-accredited lab that can do the required tests. After this, we start the required treatment. Every month, we treat nearly 10 patients who suffer from thalassemia or are prospective carriers of the same. Blood transfusion, treatment of anaemia and treatment to boost haemoglobin production are being done by eminent haematologists here. Recently, we have also done spleen surgery in some patients who required it. Apart from these, the treatment to boost bone marrow production by medicines is also done,” said Dr MS Purkait, medical superintendent, Techno India DAMA Hospital.
Steps in the right direction
The National Health Mission (NHM) has released guidelines for the prevention and control of hemoglobinopathies, including thalassemia. Meanwhile, organisations like the Prathama Blood Centre have launched thalassemia eradication programs and pioneered the use of advanced Nucleic Acid Testing (NAT) to improve blood safety for transfusion-dependent patients.
Despite these efforts, experts insist that a multi-pronged approach is essential — one that includes robust public awareness campaigns, mandatory screening programmes in high-prevalence regions, genetic counselling services, and, critically, the establishment of a national patient registry