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- W1978429439 abstract "Homozygosity for the South-Asian α-thalassemia (—SEA/) deletion is a serious hematological condition that results, in most cases, in intrauterine or postnatal death due to anemia and severe hypoxia of prenatal onset. A relationship between congenital abnormalities and intra-uterine hypoxia has been postulated. However, since homozygosity for the (—SEA/) deletion is most common in underdeveloped countries where detailed autopsies are lacking, the incidence of congenital abnormalities among these babies has not been well delineated. We report on three newborn infants, homozygous for the (—SEA/) deletion, who were born with limb defects. We postulate that this combination is the result of prenatal hypoxia which may affect other fetal body organs. This should be taken into consideration when prenatal treatment of affected fetuses, with intra-uterine blood transfusion, is suggested. Am. J. Med. Genet. 68:162–167, 1997 © 1997 Wiley-Liss, Inc." @default.
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- W1978429439 date "1997-01-20" @default.
- W1978429439 modified "2023-10-13" @default.
- W1978429439 title "Limb defects in homozygous α-thalassemia: Report of three cases" @default.
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- W1978429439 doi "https://doi.org/10.1002/(sici)1096-8628(19970120)68:2<162::aid-ajmg8>3.0.co;2-r" @default.
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