Absence of functional messenger RNA activity for beta globin chain synthesis in beta 0-thalassemia.
Functional human globin messenger RNA was isolated from reticulocytes of two patients with homozygous beta 0-thalassemia, three patients with sickle cell beta 0-thalassemia, and one patient doubly heterozygous for beta 0-thalassemia and hemoglobin Lepore. When incubated in the Krebs type II mouse ascites tumor-cell-free system, messenger RNA from these patients actively directed the synthesis of human beta s and/or alpha- and gamma-globin chains but failed to stimulate the synthesis of any beta A-chains, even though nonthalassemic human globin mRNA preparations consistently stimulated two to four times as much beta A- or beta S-globin chain synthesis as alpha-chain synthesis when incubated in the same system under the same conditions. These results strongly suggest that functional beta A-chain-specific globin mRNA is absent in beta 0-thalassemia.
D000740:Anemia / Q000097:blood / Q000235:genetics; D005914:Globins / Q000096:biosynthesis / Q000172:deficiency / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D046911:Macromolecular Substances; D012333:RNA, Messenger / Q000235:genetics*; D012156:Reticulocytes / Q000378:metabolism; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D046911:Macromolecular Substances; D012333:RNA, Messenger; D005914:Globins