Congenital dyserythropoietic anemia type I with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy.
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.
Goede
Jeroen S
JS
Institute of Oncology and Haematology, City-Hospital Triemli, Birmensdorferstrasse 497, 8063 Zürich, Switzerland. jeroen.goede@triemli.stzh.ch
Benz
Rudolf
R
Fehr
Joerg
J
Schwarz
Klaus
K
Heimpel
Hermann
H
D000328:Adult; D000483:Alleles; D000742:Anemia, Dyserythropoietic, Congenital / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D004900:Erythroblasts / Q000473:pathology; D004920:Erythropoiesis / Q000187:drug effects / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use; D016898:Interferon-alpha / Q000627:therapeutic use; D019190:Iron Overload / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins
C470477:CDAN1 protein, human; D006023:Glycoproteins; D007155:Immunologic Factors; D016898:Interferon-alpha; D009687:Nuclear Proteins