Abstract
Congenital dyserythropoietic anemia type I (CDA I) is a rare autosomal recessive disorder with ineffective erythropoiesis, characteristic morphological abnormalities of erythroblasts, and iron overloading. CDA I is caused by mutations in the CDAN I gene, encoding a protein named codanin-1. Complex bone abnormalities, especially syndactyly, have not been systematically described with this disease. We present two cases of morphologically and genetically confirmed CDA I with striking bone abnormalities and response to treatment with alpha-interferon. Our cases clearly document the association of skeletal anomalism with CDA I and indicate that codanin-1 may play a role in the development of the skeleton.
Publication types
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Case Reports
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Comparative Study
MeSH terms
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Adult
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Alleles*
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Anemia, Dyserythropoietic, Congenital / drug therapy
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Anemia, Dyserythropoietic, Congenital / genetics*
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Anemia, Dyserythropoietic, Congenital / pathology
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Erythroblasts / pathology
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Erythropoiesis / drug effects
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Erythropoiesis / genetics*
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Female
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Foot Deformities, Congenital / drug therapy
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Foot Deformities, Congenital / genetics*
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Foot Deformities, Congenital / pathology
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Glycoproteins / genetics*
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Humans
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Immunologic Factors / therapeutic use
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Interferon-alpha / therapeutic use
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Iron Overload / drug therapy
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Iron Overload / genetics*
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Iron Overload / pathology
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Male
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Middle Aged
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Nuclear Proteins
Substances
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CDAN1 protein, human
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Glycoproteins
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Immunologic Factors
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Interferon-alpha
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Nuclear Proteins