Ultrastructural abnormalities and arrest of protein biosynthesis in some erythroblasts from homozygotes for haemoglobin C and double heterozygotes for haemoglobin C and beta-thalassaemia.
Various ultrastructural abnormalities were found in the erythroblasts of three homozygotes for haemoglobin C (HbC), one patient with HbC/beta(+)-thalassaemia and one patient with HbC/beta (0) thalassaemia. These included a coarsely granular or reticular appearance and altered electron-density of the heterochromatin, loss of parts of the nuclear membrane, and oozing of nuclear material into the cytoplasm. In addition, the two patients with HbC/beta-thalassaemia, but not the others, showed precipitated intracytoplasmic alpha-chains in a few profiles of polychromatic erythroblasts and marrow reticulocytes. Electron microscope autoradiographic studies of bone marrow cells from two of the patients with HbC disease and the patient with HbC/beta (0)-thalassaemia showed a marked depression or failure of incorporation of 3H-leucine into protein in some of the ultrastructurally abnormal erythroblasts. This impairment of protein synthesis may lead to alterations in the erythroblast membrane that are involved in the recognition and phagocytosis of the abnormal erythroblasts by macrophages.
Wickramasinghe
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SN
Department of Haematology, St Mary's Hospital Medical School, Imperial College of Science, Technology and Medicine, London.
D002462:Cell Membrane / Q000473:pathology; D004900:Erythroblasts / Q000378:metabolism / Q000648:ultrastructure*; D006444:Hemoglobin C / Q000235:genetics*; D006445:Hemoglobin C Disease / Q000235:genetics / Q000473:pathology*; D006570:Heterochromatin / Q000648:ultrastructure; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D014176:Protein Biosynthesis; D013789:Thalassemia / Q000235:genetics / Q000473:pathology*
D006570:Heterochromatin; D006444:Hemoglobin C