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  • Title: The risk of alpha-thalassaemia in offspring of beta-thalassaemia carriers in Hong Kong.
    Author: Lam YH, Ghosh A, Tang MH, Chan V.
    Journal: Prenat Diagn; 1997 Aug; 17(8):733-6. PubMed ID: 9267896.
    Abstract:
    Couples in whom one is heterozygous for alpha-thalassaemia-1 and the other is heterozygous for beta-thalassaemia are assumed not to be at risk of having offspring with homozygous alpha-thalassaemia-1 or homozygous beta-thalassaemia. We retrospectively reviewed the genetic outcome of 189 pregnancies of 178 couples in whom the partners were diagnosed to be discordant heterozygotes of alpha-thalassaemia and beta-thalassaemia on haematological tests. Zeta gene mapping was performed on 158 beta-thalassaemia carriers to diagnose the presence of co-existing alpha-thalassaemia-1. Eleven patients (7 per cent) were found to be compound alpha- and beta-thalassaemia heterozygotes. They accounted for 16 pregnancies, of which five were diagnosed to be affected by homozygous alpha-thalassaemia-1. Our results show that couples presumed to be discordant heterozygotes of alpha- and beta-thalassaemia on haematological testing are at risk of having offspring with homozygous alpha-thalassaemia-1 if the zeta gene mapping of the heterozygous beta-thalassaemia partner shows co-inheritance of alpha-thalassaemia-1. Prenatal diagnosis of homozygous alpha-thalassaemia-1 should be performed on these at-risk pregnancies.
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