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Congenital Dyserythropoietic Anaemia (CDA) with Severe Gout, Rare Kell Phenotype and Erythrocyte, Granulocyte and Platelet Membrane Reduplication: a New Variant of CDA Type II

A 43‐year‐old man with lifelong anaemia showed features which indicate him to have a previously undescribed variant of congenital dyserythropoietic anaemia (CDA), type II. The main clinical features—of which the first two are unique or very unusual in CDA—have been severe tophaceous gout, massive splenomegaly, gall stones necessitating cholecystectomy and haemosiderosis affecting the liver and probably the heart. At age 41 he sustained a spontaneous retinal detachment. In the peripheral blood there were large numbers of nucleated red blood cells and marked macrocytosis; otherwise the picture was typical of CDA type II. The bone marrow contained many bi‐ and multi‐nucleated erythrocyte precursors. There were increased levels of a number of red cell enzymes and a slightly raised level of HbF. Uncharacteristically, the red cells failed to lyse with acidified normal serum. The cells were strongly agglutinated by anti‐i and were of the rare Kpb‐negative phenotype. Plasma lipid analysis showed very low levels of cholesterol and vitamin E. Lipid peroxidation was markedly increased. Ultrastructural studies showed reduplication of the erythrocyte, granulocyte, and platelet cell membranes.