Alpha-thalassemia

An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.

Hypospadias

Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.


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PMID (PMCID)
10215545
 MALE Infant, Newborn
Homozygous alpha-thalassemia associated with hypospadias in three survivors.
Fung TY, Kin LT, Kong LC, Keung LC.
Am J Med Genet. 1999;82(3):225-7.
We report three cases of homozygous alpha-thalassemia (alphaTH) who survived beyond the neonatal period, all with hypospadias.