Prenatal diagnosis of homozygous alpha-thalassemia
A. M. Dozy, E. N. Forman, D. N. Abuelo, G. Barsel-Bowers, M. J. Mahoney, B. G. Forget and Y. W. Kan
A Vietnamese couple were both carriers of alpha-thalessemia-1. The woman
had a first pregnancy terminated in the delivery of a hydropic fetus due to
homozygous alpha-thalassemia. The couple requested prenatal diagnosis for
the second pregnancy. The DNA obtained from cultured amniotic fluid cells
was studied pregnancy. The DNA obtained from cultured amniotic fluid cells
was studied by hybridization with globin cDNA in solution and on filters
(Southern technique). Both analyses demonstrated no alpha-globin structural
genes were present. Following termination of the pregnancy, the diagnosis
was established by the presence of only hemoglobins Barts (gamma 4) and
Portland (zeta 2 gamma 2) in the fetal blood.
