Congenital dyserythropoietic anemia type I with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy.

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.

• Authors: Jeroen S Goede, Rudolf Benz, Joerg Fehr, Klaus Schwarz, Hermann Heimpel
• Journal: Annals of hematology (Ann Hematol) Vol. 85 Issue 9 Pg. 591-5 (Sep 2006) ISSN: 0939-5555 [Print] Germany
• PMID: 16767397 (Publication Type: Case Reports, Comparative Study, Journal Article)

Chemical References

• CDAN1 protein, human
• Glycoproteins
• Immunologic Factors
• Interferon-alpha
• Nuclear Proteins

Topics

• Adult
• Alleles
• Anemia, Dyserythropoietic, Congenital (drug therapy, genetics, pathology)
• Erythroblasts (pathology)
• Erythropoiesis (drug effects, genetics)
• Female
• Foot Deformities, Congenital (drug therapy, genetics, pathology)
• Glycoproteins (genetics)
• Humans
• Immunologic Factors (therapeutic use)
• Interferon-alpha (therapeutic use)
• Iron Overload (drug therapy, genetics, pathology)
• Male
• Middle Aged
• Nuclear Proteins