Haematologica, Vol 92, Issue 3, 427-428 doi:10.3324/haematol.10803
Copyright © 2007 by Ferrata Storti Foundation
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Red Cell Disorders

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*,

* Department of Biochemistry, Institute of Hematology and Blood Transfusion, 00-957 Warsaw, Poland
° Department of Biochemistry and Biomedical Technologies, Naples, Italy;
# Pediatric Department, Second University of Naples, Italy

Correspondence: Jerzy Koscielak, Department of Biochemistry, Institute of Hematology and Blood Transfusion, Chocimska 5, 00-957 Warsaw, Poland. Phone: international +48.228489515. Fax: international +48.22.8480637. E-mail: kosci{at}atos.warman.com.pl

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.

Key words: congenital dyserythropoietic anemia type II, CDA-II, erythrocyte glycoconjugates.




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