Homozygous alpha-thalassemia-1 presenting in a fetus without anemia.

A fetus at risk for alpha-thalassemia presented with cardiomegaly without evidence of anemia. Invasive testing demonstrated the diagnosis of homozygous alpha-thalassemia-1 with a normal-range hemoglobin (Hb) level. We suggest that in the prenatal detection of homozygous alpha-thalassemia-1 by sonography, the diagnosis should always be confirmed with definitive methods such as fetal cord blood Hb analyses. This is important for genetic counseling and treatment for the affected fetus.