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My pregnant wife is a thalassaemia carrier, what should be her treatment?

Q: My wife is nine months pregnant. She is expected to deliver later this month. But the doctor took her blood test, which revealed that she is a thalassaemia carrier. He prescribed further blood tests for me. Everybody is tense because no one knows about this disease. What is the treatment for the same?

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. There are 2 beta globin genes that control the production of the 2 beta chains. If both genes are affected, then the individual is said to have beta thalassaemia major while one-gene abnormality results in beta thalassaemia trait (or heterozygous b-thal or thal minor or thal carrier). Persons with thalassaemia minor have mild anaemia (slight lowering of the haemoglobin level in the blood. The involvement of both genes results in severe disease (thalassaemia major or intermedia) requiring regular treatment and follow-up from infancy. Beta thalassaemia trait 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). In case you too turn out to be a thalassaemia carrier, your doctor will advise you and do some tests on the baby. There are, however, very rare instances where a thalassaemia carrier may have normal Hb A2 level and such cases can be detected only by DNA analysis (so called Silent or near silent b-thalassaemia trait).


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