Thalassemia – Is Bone Marrow Transplant the only Option? - Dr Ashwin V Nair

Beta thalassemia is an inherited disorder of the blood caused by a defective Beta – globin gene. As a result, the body can only produce little or no normal adult haemoglobin (Hb), the substance inside the red blood cells (RBCs) that is responsible for carrying oxygen throughout the body to support normal bodily function and maintain human life.

Children born with this disease, Beta thalassemia major, require blood transfusion from 6 to 12 months of age. They will require blood transfusion every 2–6 weeks for the rest of their life. Regular transfusions in these children leads to many adverse events due to iron overload in the body.

The increased iron accumulation affects mainly the liver, heart, pancreas and pituitary gland. Suboptimal and prolonged blood transfusion also leads to multiple bone deformities, growth retardation and poor sexual development.

In lower middle income countries like ours up until the 21st century, these children used to have poor outcomes due to inadequate blood transfusion and suboptimal iron chelation (medical treatment to reduce the excess iron in the body). With the onset of the 21st century, more and more centres have started doing Bone Marrow transplant in India.

Bone Marrow transplant is the only curative treatment available in India at the moment. In the future, gene therapy will definitely become accessible and hopefully revolutionize the treatment of thalassemia.

Bone Marrow transplant is a medical procedure, through which stem cells (younger form of blood cells) from healthy donors are taken and transfused to patients with defective stem cells, which causes diseases like thalassemia major.

If successful, it provides patients with complete cure for beta thalassemia and no need for further blood transfusions. Various hospitals in India are now capable of doing all kinds of bone marrow transplant for thalassemia – match related, unrelated and half matched transplant - including our centre.

It is estimated around 150 – 200 transplants are done in India for thalassemia, which is a number much improved from before but still too small a number for a country as large as ours.

This world thalassemia day, the theme by Thalassemia International Foundation is “Empowering Lives, Embracing Progress: Equitable and Accessible Thalassaemia Treatment for All’’. This means early diagnosis, optimal blood transfusion, adequate iron chelation for all children and early bone marrow transplant so that the disease can be cured.

Thalassemia patients from the last decade have been well transfused and chelated due to increased awareness, but still when they become adults they struggle with complications like chronic hepatitis, diabetes mellitus, hypogonadism and infertility.

People with thalassemia are certified as “people with disabilities” according to the RPWD Act 2016, again highlighting the difficulties they face in their adulthood.

Therefore, awareness regarding early transplant in patients with thalassemia major and its potential to completely cure and have a normal adulthood for these patients needs to be emphasized on this world thalassemia day.

Government and medical community need to take the responsibility to ensure accessible and affordable transplant for our children with thalassemia major. Through COAL India scheme, the government supports matched related transplants for thalassemia in our country in selected medical institutions.

But only this scheme is not sufficient to meet our demands as a nation, especially for those patients who do not have matched related donors. Most of the studies have shown that lifelong blood transfusion and chelation is far more expensive when compared to a bone marrow transplant.

Overall, the future looks bright for our children with thalassemia with more and more centres doing bone marrow transplants, and hopefully gene therapy just around the corner. This could mean a cure for all our children born with thalassemia in the coming decades.