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.