Absence of functional β-globin messenger RNA in Kurdish Jews with β ⁰-thalassemia

Human globin messenger RNA was isolated from reticulocytes of four Jewish patients of Kurdish origin with homozygous β(o)-thalassemia. On translation in the wheat-germ cell-free system, messenger RNA from these patients directed extensive synthesis of α-and γ-globin chains, but synthesis of β-globin chains was not detectable. In contrast, nonthalassemic human globin messenger RNA directed the synthesis of essentially equimolar amounts of α-and β-globin. The patterns of globin synthesized by β(o)-thalassemic messenger RNA in the cell-free system were virtually identical to the patterns of globin synthesized in peripheral blood cells of these patients. β(o)-thalassemic messenger RNA similarly failed to direct any β-globin synthesis in a micrococcal nuclease-treated rabbit reticulocyte lysate, even in the presence of an excess of purified eukaryotic initiation factor 2. These results strongly suggest that the functional messenger RNA for β-globin chains is absent in Kurdish Jews with homozygous β(o)-thalassemia.