Abstract
Red cell membrane proteins were investigated in two unrelated children with congenital dyserythropoietic anemia (CDA) I and two siblings with CDA II. The CDA I patients displayed globin chain synthesis imbalance, with reduction of the non α/α ratio. One of the CDA II patients presented the reverse alteration. Whenever globin chain synthesis was unbalanced, the membrane p-nitrophenylphosphatase had an abnormally biphasic kinetics, consistent with substrate excess inhibition, as is observed in α- or β-thalassemic syndromes. One CDA I patient displayed a decrease of electrophoretic band 4.1 along with an ectopic phosphorylated protein at the level of band 4.2. In CDA II patients, band 3 was strikingly narrower than in controls. In CDA II and, to a lesser extent, in CDA I, the in vitro endogenous phosphorylation of band 2 + 2.1 was sharply reduced.
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Alloisio, N., Jaccoud, P., Dorleac, E. et al. Alterations of Globin Chain Synthesis and of Red Cell Membrane Proteins in Congenital Dyserythropoietic Anemia I and II. Pediatr Res 16, 1016–1021 (1982). https://doi.org/10.1203/00006450-198212000-00010
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DOI: https://doi.org/10.1203/00006450-198212000-00010
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