India is often called the “thalassemiacapital of the world,” carrying one of the highest burdens of this inherited blood disorder globally. Health experts estimate that nearly 10,000 to 15,000 children are born every year in India with thalassemia major, while around 35 to 45 million Indians may unknowingly carry the defective gene responsible for the condition.
OnInternational Thalassemia Day, doctors are urging greater awareness around carrier screening, early diagnosis, and genetic counselling to help families prevent severe complications associated with the disease.
Thalassemia is a genetic blood disorder that affects the body’s ability to produce healthy hemoglobin - the protein in red blood cells responsible for carrying oxygen. According to experts like Dr. Thenral S Geetha, Principal Scientist – Inherited Disease Genomics, and Dr. Priya Kadam, Director – Reproductive Genomics, MedGenome Labs - the disease occurs due to mutations in genes responsible for producing alpha or beta globin chains of hemoglobin. “B-Thalassemia is the most common form. It is a severe recessive disease that manifests early in life and occurs when both copies of the HBB gene are faulty,” said Dr. Geetha.
If both parents carry the defective gene, each pregnancy carries a 25 per cent chance that the child may inherit thalassemia major - the most severe form of the condition. “Typically, within the first two years, parents may observe: persistent fatigue and paleness, jaundice, poor appetite, slow growth, and a visibly swollen belly from an enlarged spleen or liver. Affected children require regular red blood cell transfusions (typically every two to four weeks) and iron chelation therapy to manage iron overload,” said Dr. Kadam.
Doctors say one of the biggest challenges is that carriers of the beta-thalassemia trait often have mild or no symptoms. This means millions of people may unknowingly pass the gene to future generations.
Carrier frequency in India is estimated at 3 to 4 per cent nationally, but can rise as high as 17 per cent in certain communities and ethnic groups. This is why experts strongly recommend preconception and prenatal screening.
Children with beta-thalassemia major often develop symptoms within the first two years of life. Common signs include:
Doctors shared the story of a Bengaluru couple whose first child was diagnosed with beta-thalassemia major. During their second pregnancy, prenatal genetic testing confirmed the fetus had inherited the condition.
After counselling, the couple later opted for IVF combined with Preimplantation Genetic Testing for Monogenic Disorders (PGT-M), a technique that screens embryos for inherited diseases before implantation. The couple eventually conceived a healthy child free from thalassemia. “Their physician recommended a more preventive strategy of in vitro fertilization (IVF) together with Preimplantation Genetic Testing for Monogenic Disorders (PGT-M). This screens embryos prior to implantation for specific inherited conditions such as thalassemia,” said Dr. Geetha.
Experts say technologies like IVF with genetic testing are giving high-risk families new hope.
Source: India Latest News, Breaking News Today, Top News Headlines | Times Now
