Bone Marrow and Peripheral Blood Globin Synthesis in an American Black Family With Beta Thalassemia

Abstract

Abstract Synthesis of globin chains in bone marrow and peripheral blood samples from a black family with mild beta thalassemia was compared with similar studies in white people. Blood and bone marrow were incubated with 14C-leucine, globin chains were isolated, and β/α and γ/α ratios were calculated. The results of studies of globin synthesis in homozygotes of different races were similar, despite the differences in severity of clinical disease. In the heterozygotes, there was a significant defect in beta synthesis in the peripheral blood of white subjects, while in two of three black patients the β/α ratio was in the normal range. Although there was no evidence of segregation of an alpha thalassemia gene in this black family to explain the unusual β/α ratios, the presence of such a gene in the heterozygotes could not be excluded.