Q: I am suffering from heterozygous beta thalassaemia. What are the dangers and what precautions can be taken to avoid ill health? What is the extent of this condition? My haemoglobin is 8.1. RBC = 2.82 lakhs. Otherwise I am extremely fit and active in sports.

A:Thalassaemias are a group of genetic diseases caused by the production of abnormal haemoglobin, the red coloured protein present in red blood cells that transports oxygen in the body. Haemoglobin comprises two beta (b)-globin and two alpha (a)-globin chains, their production being governed by 2b and 4a genes respectively. In b-thalassaemia, the production of b-chain is abnormal while in a-thal it is the a-chain. When only one beta-globin gene is affected (thal minor or trait or carrier or heterozygous), it results in mild anaemia not requiring treatment but the involvement of both genes results in severe disease (thalassaemia major or intermedia) requiring regular treatment and follow-up from infancy. Persons with thalassaemia minor have only mild anaemia (slight lowering of the haemoglobin level in the blood) and it is a clinically benign disorder. The importance lies in the fact that if both parents are carriers (i.e. carry one abnormal b-gene), an offspring may co-inherit a b-thalassaemia gene from both the parents making it homozygous resulting in a medically significant thalassaemia (b-thalassaemia major). This probability is 25% in each pregnancy. The clinical condition can very closely resemble mild iron-deficiency anaemia. Your Hb level cannot be explained by thal trait alone and you should get iron studies (serum ferritin, serum iron & TIBC) done to exclude concomitant iron deficiency. If present, then iron supplement will help. Take a normal nutritious diet and folic acid supplement twice a week.