Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene

Ewa Zdebska, Achille Iolascon, Justyna Spychalska, Silverio Perrotta, Carmen Lanzara, Gabriela Smolenska-Sym, Jerzy Koscielak

Research output: Contribution to journalArticle

Abstract

We analyzed erythrocyte glycoconjugates in two families with congenital dyserythropoietic anemia type II (CDA-II): family 2 with the typical localization of the disease gene to chromosome 20q11.2 and family 1 in which this localization was excluded. Despite the different genetics, the erythrocyte glycoconjugate abnormalities in the two families were identical suggesting a complex inheritance of CDA-II. We also found that erythrocyte anion exchanger 1 protein is decreased in CDA-II homozygotes and obligate carriers alike.

Original languageEnglish
Pages (from-to)427-428
Number of pages2
JournalHaematologica
Volume92
Issue number3
DOIs
Publication statusPublished - Mar 2007

Keywords

  • CDA-II
  • Congenital dyserythropoietic anemia type II
  • Erythrocyte glycoconjugates

ASJC Scopus subject areas

  • Hematology

Fingerprint Dive into the research topics of 'Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene'. Together they form a unique fingerprint.

  • Cite this