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Limb defects in homozygous α-thalassemia: Report of three cases by Chitayat, David; Silver, Meredith M.; O'Brien, Karel; Wyatt, Phil; Waye, John S.; Chiu, David H. K.; Babul, Riyana; Thomas, Micki is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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Homozygosity for the South-Asian ␣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 intrauterine blood transfusion, is suggested. Am.

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Author

Chitayat, David; Silver, Meredith M.; O'Brien, Karel; Wyatt, Phil; Waye, John S.; Chiu, David H. K.; Babul, Riyana; Thomas, Micki

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

1997

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)