Thalassemia and Sickle Cell Anemia are among the most common inherited single-gene disorder in the world. They affect hundreds of thousands of babies each year. It is also estimated that between 300,000 and 400,000 babies born each year have severe hemoglobin disorders globally. These conditions also have a lifelong health implication. However, with awareness, testing and medical advancements, they can be managed and prevented. What is Beta Thalassemia?Beta Thalassemia is a genetic blood disorder which is caused by a mutation in the beta globin gene. This gene is also essential for the production of normal hemoglobin. This is the protein in red blood cells that are responsible for carrying oxygen from the lungs to the rest of the body. Every person has two copies of the beta globin gene. If one of these genes is mutated, the person becomes a carrier, also known as having thalassemia minor. Carriers generally do not show any symptoms and have mild anemia, with their hemoglobin levels around 9d/dl and smaller red blood cells.However, if both genes are mutated, the child could have thalassemia major, a severe form of disease. The symptoms usually appear around six months of age. The children suffer form chronic anemia and require lifelong, regular blood transfusion. How Is It Diagnosed?Carrier detection is possible with a complete blood count and a test called High Performance Liquid Chromatography (HPLC). Indicators include:Low haemoglobin (~9 g/dL)Low MCV (Mean Corpuscular Volume, ~65)HbA2 levels above 3.5%Once confirmed, genetic testing can identify the specific mutation in the family, helping with future planning and prenatal testing.What Could Be Done To Manage Thalassemia?There are three main options that can help one manage thalassemia, which includes:Regular Blood Transfusions and Iron Chelation TherapyTransfusion happens every 3 to 4 weeks, which helps in maintaining hemoglobin levels and support normal growth. However, each transfusion adds iron to the body, which can then damage vital organs. Thus, iron chelation, using oral medication like Deferasirox, or injections like Desferal, which are necessary to remove the excess iron. Hematopoietic Stem Cell Transplantation Also known as bone marrow transplant, this is currently the only curative treatment. If a child has a healthy HLA-matched sibling donor, stem cells can be transplanted after destroying the patient’s defective immune system. The success rate is 85%, though complications like graft-versus-host disease (GVHD) may occur. Programs like Coal India’s CSR initiative support patients with financial aid up to ₹10 lakh.Gene TherapyThis advanced treatment involves repairing or replacing the faulty gene in the patient's own stem cells. Although it is still in the early stages and is currently available abroad at a cost of around $2 million. The Growing Burden in IndiaIndia bears a high burden of beta thalassemia and sickle cell disorders. Around 3–4% of the population — approximately 35 to 45 million people — are estimated to be carriers. The prevalence is higher among certain ethnic and tribal groups (up to 17%).Data from Maharashtra and Gujarat shows varying carrier rates between districts, with the expected rate of affected babies ranging from 0.28 to 0.39 per 1,000 births per year.Why Prevention Is Important?For a populous country like India, prevention is key. A National Thalassemia Control Programme can play a vital role by:Promoting public awareness and encouraging voluntary carrier testing before marriage or early in pregnancy.Offering antenatal testing (via chorionic villus sampling at 12 weeks) for couples who are both carriers.In parallel, ensuring access to safe blood transfusions and affordable iron chelation for affected children is crucial to improving quality of life.