Erythrocyte membranes from a patient with congenital dyserythropoietic anaemia type I (CDA-I) show identical, although less pronounced, glycoconjugate abnormalities to those from patients with CDA-II (HEMPAS)

Congenital dyserythropoietic anaemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and multinuclearity of erythrob lasts. Three main types of the disease have been described. Glycoconjugate abnormalities in erythrocyte membrane glycoconjugates, consisting of hypogl ycosylation of band 3 and accumulation of certain glycosphingolipids includ ing lactotriaosylceramide, neolactotriaosylceramide and polyglycosylceramid es, have been described only in patients with CDA type II (CDA-II). We repo rt on identical, although less pronounced, abnormalities in erythrocyte gly coconjugates from a patient with CDA-I. A low degree of hypoglycosylation o f band 3 in our patient with CDA-I suggests that hypoglycosylation is not a cause, but, most probably, a consequence of dyserythropoiesis.