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Homozygous alpha-thalassemia associated with hypospadias in three survivors

✍ Scribed by Fung, Tak Yuen; Kin, Lau Tze; Kong, Li Chi; Keung, Li Chi

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 13 KB
Volume: 82
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990129)82:3<225::aid-ajmg6>3.0.co;2-q

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✦ Synopsis

We report three cases of homozygous ␣-thalassemia (␣TH) who survived beyond the neonatal period, all with hypospadias. A review of literature identified two additional male cases of homozygous ␣TH who survived, and both had hypospadias. The simultaneous occurrence of the two conditions seems beyond coincidence and may be causally related. Possible pathogenesis for the association may be 1) homozygous ␣THinduced in utero and/or edema secondary to hydrops fetalis, both leading to the failure of proper fusion of the urogenital folds, or 2) defect of another gene located at a chromosome 16p13.3 region. Thus, parents who request intrauterine therapy for a male fetus with homozygous ␣TH should be informed about this association and its prognosis. Am.

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