Prenatal Diagnosis of α-Thalassemia

Abstract

The technic of DNA-DNA hybridization was used for prenatal diagnosis of a pregnancy at risk for homozygous α-thalassemia. Fibroblasts were cultured from amniotic fluid, and the number of α-globin genes in the DNA was quantified by hybridization with radioactive DNA complementary to α-globin mRNA sequences. As compared to control studies of DNA from patients with α-thalassemia syndromes and from unaffected subjects, the results indicated that the fetus had α-thalassemia-1. The diagnosis was confirmed by umbilical-cord blood studies. (N Engl J Med 295:1165–1167, 1976)