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Limb defects in homozygous α-thalassemia: Report of three cases

✍ Scribed by 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
Year
1997
Tongue
English
Weight
257 KB
Volume
68
Category
Article
ISSN
0148-7299

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✦ Synopsis

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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Limb defects and congenital anomalies of the genitalia in an infant with homozygous α-thalassemia
✍ Abuelo, Dianne N.; Forman, Edwin N.; Rubin, Lewis P. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 131 KB 👁 1 views

We describe an infant with homozygous ␣thalassemia, genital abnormalities, and terminal transverse limb defects, whose limbs demonstrate evidence of loss of tissue and abnormal morphogenesis. We propose these defects were due to either severe fetal anemia or to vascular occlusion by abnormal erythro