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Alpha thalassaemia as a cause of hypochromic, microcytic anaemia in pregnancy is described. The problems associated with accurate diagnosis of this condition and prediction of fetal outcome is now made much easier by use of recombinant DNA techniques such as gene mapping. Two Greek Cypriot families with alpha thalassaemia have been studied by DNA mapping. Definitive assessment of alpha thalassaemia genotype in these cases enabled confident genetic counselling.
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