Thalassemia. (Image generated using AI)
Thalassemia is one of the most prevalent inherited blood disorders in India and thousands of people with the gene are unaware of the condition. Thalassemia carriers may have no symptoms and go through their lives as normal unlike a number of other disorders where there are obvious warning signs. But experts warned that being a silent carrier can be life threatening for future generations if left undiagnosed.
According to 2025 estimates India has the highest burden of thalassemia in the world with almost 1.5 lakh patients suffering from the medical condition and about 12,000 new cases reported annually. Based on the statistics of the Indian Council of Medical Research (ICMR) it is estimated that almost 3 to 4 per cent of Indians are beta-thalassemia carriers which is higher among some tribal communities at almost 8 per cent.
Thalassemia is a blood disease that is passed down through family genes and is due to mutations in the genes which produce haemoglobin the protein found in the red blood cells that carries oxygen around the body. While people with thalassaemia major require regular blood transfusions for life, the silent carriers do not show symptoms and the condition is hard to detect unless they are screened.
Explaining why early diagnosis is crucial, Dr. Talat Khan, Doctor in charge, Medical Genetics, Metropolis Healthcare Limited notes, "A carrier usually leads a normal life and is unaware that he or she carries a genetic mutation. The concern arises when two silent carriers marry as they have a 25 per cent chance of having a child with thalassemia major i.e 50 per cent chance of having a carrier child and only 25 per cent chance of having a completely unaffected child. Thalassemia is a preventable genetic disorder if identified at the right time." The expert continued that pre-marriage or pre-pregnancy screening would greatly minimize the incidence of severe thalassemia.
According to Dr. Khan early screening and molecular genetic testing such as Complete Blood Count (CBC) and High-Performance Liquid Chromatography (HPLC). She suggests that family screening, premarital and pre-conception screening are especially important in high risk communities. The expert also suggests that couples who are both carriers can take prenatal tests like chorionic villus sampling (CVS) or amniocentesis to determine whether the unborn baby is affected as this could allow families to make informed decisions through genetic counselling.
One of the major challenges even with the progress of genetic tests is awareness. Limited access to diagnostic facilities particularly in rural areas and stigma around tests prevent many from seeking them. Dr. Khan makes it clear that the discussion of being a carrier should be normalised because there is a difference between being a carrier and having the disease. She also emphasises the need for awareness programmes and screening programmes to be introduced in schools and colleges in order to detect carriers early.
Disclaimer: This article is for informational purposes only and is not a substitute for professional medical advice, diagnosis or treatment. Always consult a qualified healthcare provider or genetic counselor for personalized guidance about thalassemia screening and testing.
