Awareness, not just medicine, key to combating thalassaemia

DR Shruti Kakkar, Professor of Paediatrics and Consultant, Clinical Hematology and Stem Cell Transplant Unit, Christian Medical College and Hospital, Ludhiana, spoke to Manav Mander about thalassaemia, a life-altering genetic blood disorder, which continues to silently affect thousands of Indian families every year. Despite advancements in medical science and availability of investigations, the country still sees a high number of births with thalassaemia major—a severe form of the disease that demands a lifelong regimen of blood transfusions and iron chelation therapy. The most powerful weapon against this condition is not found in laboratories or hospital wards, but in awareness, education and early intervention.

n What is thalassaemia?

thalassaemia is an inherited disorder in which the body fails to produce enough healthy haemoglobin, the protein in red blood cells that carries oxygen. Children born with thalassaemia major often begin to show symptoms within the first year of life—extreme fatigue, paleness, stunted growth, bone deformities and a swollen abdomen due to an enlarged spleen. Such patients require regular blood transfusions, sometimes every two–four weeks, just to survive. Over time, the iron from repeated transfusions builds up in the body, damaging vital organs unless it is managed with iron chelation therapy, which comes with its own risks and costs. The only curative treatment currently available is a hematopoietic stem cell transplant (HSCT)—a complex and expensive procedure, often out of reach for most underprivileged families.

n Why prevention is better than cure, when it comes to thalassemia?

India bears one of the largest thalassaemia burdens globally, with 35–45 million people unknowingly carrying the gene. If two carriers marry, there’s a 25 per cent chance with each pregnancy that their child will inherit the disease. thalassaemia is unique because it’s completely preventable, yet continues to flourish due to a lack of awareness. We can stop new cases—if we act in time.

n How prevention helps in reducing thalassaemia? Global case studies demonstrate that screening and education can dramatically reduce the number of new thalassaemia births. In countries like Cyprus, Iran and Italy, robust national screening programmes—especially before marriage—have brought new births with thalassaemia close to zero. India can adopt similar strategies, tailored to local cultural and social contexts. Some of these include community awareness campaigns: using schools, colleges, religious organisations and media platforms to spread information about carrier status. Premarital and antenatal screening, which includes a simple blood test like a CBC or haemoglobin electrophoresis to identify carriers early. Genetic counselling: when both partners are found to be carriers, trained counsellors can guide them through reproductive options and risks. Prenatal testing and IVF: technologies such as chorionic villus sampling (CVS), amniocentesis, and preimplantation genetic diagnosis (PGD) during IVF can detect or avoid the birth of an affected child.

n Does stem transplant help transform patients’ lives?

For children already born with thalassaemia, a stem cell transplant offers the only hope of a cure. However, the high cost—ranging from Rs 10 to 15 lakh—makes it inaccessible for many. To address this, Coal India Limited has stepped up through its Corporate Social Responsibility (CSR) programme, offering Rs 10 lakh to families seeking a transplant for their child. Thanks to such support, CMC Ludhiana has successfully performed over 100 thalassaemia transplants. Each success story brings renewed hope that with the right support, children with can live a healthy life.

n What role can people play in combating thalassaemia?

Everyone has a role to play in combating thalassaemia. Here’s how you can contribute: Get tested: if you are planning to marry or start a family, ask your doctor for a thalassaemia screening. Break the silence: talk about the disease. Help normalise testing and reduce stigma. Offer support: provide emotional and practical help to families affected by thalassaemia. Donate to support transplant programmes or awareness drives. Encourage policy change: advocate for mandatory screening at colleges and health centres.

Ludhiana