title: Limb defects in homozygous alpha-thalassemia: report of three cases.
abstract: Homozygosity for the South-Asian alpha-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.
authors.affiliation: Prenatal Diagnosis Program, University of Toronto, Ontario, Canada.
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: M M
authors.initials: MM
authors.lastname: Silver
authors.forename: K
authors.initials: K
authors.lastname: O'Brien
authors.forename: P
authors.initials: P
authors.lastname: Wyatt
authors.forename: J S
authors.initials: JS
authors.lastname: Waye
authors.forename: D H
authors.initials: DH
authors.lastname: Chiu
authors.forename: R
authors.initials: R
authors.lastname: Babul
authors.forename: M
authors.initials: M
authors.lastname: Thomas
mesh_terms: D000328:Adult; D005121:Extremities / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D000860:Hypoxia; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011859:Radiography; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion / Q000235:genetics*; D013576:Syndactyly; D017085:alpha-Thalassemia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*