Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene.
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.
Zdebska
Ewa
E
Iolascon
Achille
A
Spychalska
Justyna
J
Perrotta
Silverio
S
Lanzara
Carmen
C
Smolenska-Sym
Gabriela
G
Koscielak
Jerzy
J
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*
D001457:Anion Exchange Protein 1, Erythrocyte; D002241:Carbohydrates; D006001:Glycoconjugates; D011506:Proteins