The clinical and laboratory findings in an asymptomatic 19-year-old Welshman with congenital dyserythropoietic anaemia (CDA) type III are described. The blood film showed macrocytosis and red cell fragmentation and there was biochemical evidence of intravascular haemolysis. The bone marrow showed erythroid hyperplasia, megaloblastic erythropoiesis and several giant multinucleate erythroblasts. Some mononucleate erythroblasts were large and had relative DNA contents of 4-8c and the bi- and multinucleate erythroblasts had total DNA contents of 2-16c. Some of the multinucleate erythroblasts displayed a variety of ultrastructural abnormalities, including marked differences in the appearances of the individual nuclei within the same cell. The marrow cells gave a normal deoxyuridine-suppressed value indicating that the megaloblastic changes were not caused by an impairment of the methylation of deoxyuridylate. The rates of incorporation of 14C-glycine and 14C-adenine into both the DNA and RNA of bone marrow cells were within the normal range. Furthermore, the average rate of elongation of newly-synthesised, 3H-thymidine-labelled daughter DNA strands, assessed by hydroxyapatite chromatography of alkali-denatured DNA was found to be normal. The results suggest that there is no impairment of DNA replication in the majority of the erythroblasts and that the abnormality of erythropoiesis resulted from disturbances during mitosis and the G2 phase.
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