Glycoconjugate abnormalities in patients with congenital dyserythropoietic anaemia type I, II and III

Ewa Zdebska, Ewa Gołaszewska, Jadwiga Fabijańska-Mitek, Harry Schachter, Hannah Shalev, Hannah Tamary, Herbert Sandström, Anders Wahlin, Jerzy Kościelak

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)907-913
Number of pages7
JournalBritish Journal of Haematology
Volume114
Issue number4
DOIs
StatePublished - 2001
Externally publishedYes

Keywords

  • Congenital dyserythropoietic anaemia type I, II and III
  • Glycoproteins
  • Glycosphingolipids
  • Hypoglycosylation
  • Unglycosylation

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