title: Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene.
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.
authors.forename: Ewa
authors.initials: E
authors.lastname: Zdebska
authors.forename: Achille
authors.initials: A
authors.lastname: Iolascon
authors.forename: Justyna
authors.initials: J
authors.lastname: Spychalska
authors.forename: Silverio
authors.initials: S
authors.lastname: Perrotta
authors.forename: Carmen
authors.initials: C
authors.lastname: Lanzara
authors.forename: Gabriela
authors.initials: G
authors.lastname: Smolenska-Sym
authors.forename: Jerzy
authors.initials: J
authors.lastname: Koscielak
mesh_terms: D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000097:blood / Q000235:genetics*; D001457:Anion Exchange Protein 1, Erythrocyte / Q000032:analysis / Q000737:chemistry; D001853:Bone Marrow / Q000473:pathology; D002241:Carbohydrates / Q000032:analysis; D002648:Child; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D004900:Erythroblasts / Q000737:chemistry / Q000473:pathology; D004910:Erythrocyte Membrane / Q000737:chemistry*; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D005838:Genotype; D006001:Glycoconjugates / Q000097:blood* / Q000737:chemistry; D006031:Glycosylation; D006801:Humans; D008297:Male; D011506:Proteins / Q000235:genetics*
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D002241:Carbohydrates; D006001:Glycoconjugates; D011506:Proteins