Timely prenatal genetic counselling can prevent thalassemia

There are about 40 million carriers of thalassemia in India making it the world’s thalassemia capital. Over 1,00,000 thalassemia majors are under blood transfusion every month. On World Thalassemia Day awareness needs to be created on the fact that prenatal counselling and tests can help in early detection and making informed decisions. Thalassemia refers to a spectrum of genetic blood disorders, involving the absence of or errors in genes responsible for producing haemoglobin. People with this condition produce lesser amounts of healthy haemoglobin throughout their life, and their bone marrow may even stop producing healthy red blood cells after a certain time. Speaking about this, researcher said, “There is a myth that thalassemia is acquired from contact. However, it is an inherited condition, meaning that either one of the parents is a carrier. Ignorance about thalassemia and lack of awareness delays diagnosis due to which people end up transferring faulty genes to their children. Even if there is one parent with traits of thalassemia minor, the chances of having a child with thalassemia minor are about 50%. The probability becomes 25% if both parents are carriers of thalassemia minor. It is imperative to get newborns tested at birth. Women planning to conceive must also undergo tests to detect whether they carry thalassemia traits.”

Some symptoms of thalassemia include weakness, fatigue, slow growth, pale appearance, abnormal swelling, abnormal bone structure (especially on the face and skull), heart problems, and iron overload. Adding his inputs, the Dr. said, “”Indians are still not aware of the importance and necessity for preventive health checkups. Thus, people suffering from genetic disorders such as thalassemia unknowingly pass it on to their children. In pregnant women, prenatal tests help detect this condition before birth. In case one or both the parents have this condition, it is a good idea to consult the doctor to address the risk appropriately. Prevention and early detection are perhaps the most feasible and cost-effective ways to control this disease. The need of the hour is an integrated plan of action including mass screening for carriers before marriage and before conception.” “The government must also make sustained efforts to issue directives that will help make blood transfusion and related drugs and treatment free or low cost for such patients in primary care centres.  As with any other disease, we need immediate policies which can ensure access to genetic counselling and detection right at the outset. There is also a need to ensure that all those with thalassemia have access to the oral chelating drugs. The government also needs to weigh the possibility of making oral chelators free for those who cannot afford them”, added a Dr. Thalassemia usually requires lifelong treatment with blood transfusions and medication. The main treatment methods are: blood transfusions, removing excess iron or chelation therapy, stem cell or bone marrow transplants, and treating other problems. In addition, efforts must also be directed towards motivating gynaecologists and pathologists to ensure that every pregnant woman goes through the HbA2 test before 14 weeks of pregnancy as this can help in the timely diagnosis of thalassemia.

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