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.
Publication types
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Comparative Study
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Anemia, Dyserythropoietic, Congenital / blood
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Anemia, Dyserythropoietic, Congenital / genetics*
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Anion Exchange Protein 1, Erythrocyte / analysis
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Anion Exchange Protein 1, Erythrocyte / chemistry
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Bone Marrow / pathology
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Carbohydrates / analysis
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Child
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Chromosome Mapping
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Chromosomes, Human, Pair 20 / genetics*
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Erythroblasts / chemistry
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Erythroblasts / pathology
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Erythrocyte Membrane / chemistry*
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Female
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Genes, Recessive
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Genetic Carrier Screening
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Genotype
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Glycoconjugates / blood*
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Glycoconjugates / chemistry
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Glycosylation
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Humans
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Male
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Proteins / genetics*
Substances
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Anion Exchange Protein 1, Erythrocyte
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Carbohydrates
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Glycoconjugates
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Proteins