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How can thalassaemia be prevented?

Q: My second cousin has low haemoglobin (9.6) and the reason detected in the test came out to be thalassaemia but not acute. The reason for it as far as we know is due to close cousins marrying and in her case her mom & dad are first cousins. Is there a solution for it? The problem doesn't end here; we are in love and want to marry but I fear that due to closeness of our relationship the problem will be carried to the future generations, is that true? She is not aware of the fact but I am prepared for any fact so please do tell me as future of many people depends upon it.

A:Thalassaemia is a genetic disease affecting red blood cells. The mode of inheritance is autosomal recessive. The chances of the progeny being affected is one in 4 (25%) if both partners are affected. Thus it is possible to have unaffected children where both parents are affected with minor forms of thalassaemia. The first step in preventing the disease in next generation is to confirm the presence of the disease in both partners. The next step is to confirm the nature of thalassaemia, whether it is a severe form (thalassaemia major, needing repeated transfusions of blood), intermedia or minor. The third step is to confirm the nature of thalassaemia by DNA studies (molecular genetics). Such facilities are available in many reputed institutions such as All India Institute of Medical Sciences at New Delhi, Sir Ganga Ram Hospital at New Delhi, Christian Medical College at Vellore, Institute of Immunohaematology (ICMR) near KEM Hospital at Mumbai, etc.


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