title: Glycoconjugate abnormalities in patients with congenital dyserythropoietic anaemia type I, II and III.
abstract: Congenital dyserythropoietic anaemia type II (CDA II) is well known for glycosylation abnormalities affecting erythrocyte membrane glycoconjugates that encompass hypoglycosylation of band 3 glycoprotein and accumulation of glycosphingolipids: lactotriaosylceramides, neolactotriaosylceramide and polyglycosylceramides. These abnormalities were not observed in erythrocytes from patients with CDA of either type I or III. Recently, however, we have described a CDA type I patient in Poland with identical, though less pronounced, glycoconjugate abnormalities to those observed in patients with CDA type II. The abnormalities included partial unglycosylation of O-linked glycosylation sites in glycophorin A. These abnormalities are now reported in three Bedouin patients from Israel with CDA type I. In addition, the erythrocyte membranes of these patients exhibited highly increased globotetraosylceramide content. Glycoconjugate abnormalities were also present in erythrocyte membranes from three patients from Northern Sweden with CDA type III but they almost exclusively affected glycosphingolipids. In erythrocytes of all patients examined including one with CDA type II, polyglycosylceramides were significantly hypoglycosylated although, on a molar basis, their contents in erythrocyte membranes were increased. Thus, glycoconjugate abnormalities of varying intensity occur in erythrocyte membranes from all patients with CDA that were investigated.
authors.affiliation: Department of Biochemistry, Institute of Haematology and Blood Transfusion, ul. Chocimska 5, 00-957 Warsaw, Poland.
authors.forename: E
authors.initials: E
authors.lastname: Zdebska
authors.forename: E
authors.initials: E
authors.lastname: Gołaszewska
authors.forename: J
authors.initials: J
authors.lastname: Fabijańska-Mitek
authors.forename: H
authors.initials: H
authors.lastname: Schachter
authors.forename: H
authors.initials: H
authors.lastname: Shalev
authors.forename: H
authors.initials: H
authors.lastname: Tamary
authors.forename: H
authors.initials: H
authors.lastname: Sandström
authors.forename: A
authors.initials: A
authors.lastname: Wahlin
authors.forename: J
authors.initials: J
authors.lastname: Kościelak
mesh_terms: D000742:Anemia, Dyserythropoietic, Congenital / Q000097:blood* / Q000145:classification; D001457:Anion Exchange Protein 1, Erythrocyte / Q000737:chemistry / Q000378:metabolism; D016022:Case-Control Studies; D004910:Erythrocyte Membrane / Q000378:metabolism*; D006001:Glycoconjugates / Q000737:chemistry / Q000378:metabolism*; D006021:Glycophorins / Q000737:chemistry / Q000378:metabolism; D006031:Glycosylation; D006801:Humans
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D006001:Glycoconjugates; D006021:Glycophorins