Brief clinical report: Homozygous alpha-thalassemia associated with hypospadias in three survivors

Abstract

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