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15. Homozygous alpha-thalassemia associated with hypospadias in three survivors.

Author

Fung TY, Kin LT, Kong LC, and Keung LC

Subjects
Blood Transfusion, Intrauterine adverse effects, Child, Chromosomes, Human, Pair 16 genetics, Homozygote, Humans, Hydrops Fetalis genetics, Hydrops Fetalis therapy, Infant, Newborn, Male, Mutation, Hypospadias etiology, Hypospadias genetics, alpha-Thalassemia complications, alpha-Thalassemia genetics
Abstract

We report three cases of homozygous alpha-thalassemia (alphaTH) who survived beyond the neonatal period, all with hypospadias. A review of literature identified two additional male cases of homozygous alphaTH 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 alphaTH-induced 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 alphaTH should be informed about this association and its prognosis.

Published
1999

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