Changing outcome of homozygous alpha-thalassemia: Cautious optimism

Only a few long-term survivors of homozygous alpha -thalassemia, a usually fatal condition, have been reported. The authors present a surviving infant with this disorder and discuss the complications, treatments, and implicat ions of this genetic hemoglobinopathy. The child had no antenatal intervent ion and has been treated with regular transfusions. She has had normal grow th and development and is currently 2.5-years-old. A literature review of s urvivors with Bart hemoglobinopathy reveals an intense perinatal course and a great prevalence of congenital urogenital and limb defects. Advances in antenatal diagnosis, intrauterine intervention, and postnatal treatments ha ve resulted in extended survival of children with congenital defects that u ntil recently were considered invariably fatal. Transfusion and chelation t herapy and bone marrow transplantation provide long-term treatment and pote ntial curative options.