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 skeleto

Micromapping of very rare anemias: the model of CDA

The congenital dyserythropoietic anemias, first described in 1966 and classified into four distinct types in 1968, are still very rare. However, many cases were described in recent years, mainly in European Countries. The detection of mutations of the CDAN1-gene (Tamary et al. from Israel) in all cases of CDA I and of the SEC23B-gene in almost all cases of CDA II (Schwarz, Iolascon, Heimpel et al. from Germany and Italy, Zanella, Bianchi et al. from Italy) stimulated greater awarness of the CDAs and resulted in many recent reports from all continents. Period prevalance of the the last 50 years in the European countries collated in the German Registry on CDAs were calculated in 2009 and published in 2010. The cumulated incidence of both types combined variedwidely between European regions, with minimal values of 0.08 cases⁄million in Scandinavia and 2.60 cases⁄million in Italy..