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April 13, 1979

Prenatal Diagnosis of Homozygous α-Thalassemia

JAMA. 1979;241(15):1610-1612. doi:10.1001/jama.1979.03290410042022

A Vietnamese couple were both carriers of α-thalassemia-1. The woman had a first pregnancy terminated in the delivery of a hydropic fetus due to homozygous α-thalassemia. The couple requested prenatal diagnosis for the second 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 α-globin structural genes were present. Following termination of the pregnancy, the diagnosis was established by the presence of only hemoglobins Barts (γ4) and Portland (ζ2γ2) in the fetal blood.

(JAMA 241:1610-1612, 1979)