Registry of Congenital Dyserythropoietic Anemia
Registry of Congenital Dyserythropoietic Anemia
Congenital dyserythropoietic anemia is a heterogeneous inherited disease. Hyperplasic
 erythropoiesis is ineffective and associated with morphological abnormalities of some of the
 erythroblasts that form the basis of cytological classification. The cumulative incidence is
 not very clear, but varies between countries from 0.08 million in Scandinavia to 2.6
 cases/million inhabitants in Italy where it appears to be the most reported.

 The common manifestation is moderate chronic congenital anemia. This anaemia is either
 normocytic or discreetly macrocytic, non-regenerative or inappropriate regarding anaemia,
 contrasting with signs of hemolysis with moderate unconjugated hyperbilirubinemia. Diagnosis
 is usually made in the pediatric period, but because of the great heterogeneity, the
 diagnosis sometimes may be delayed. Splenomegaly and jaundice are mostly present. Secondary
 hemochromatosis is common in the absence of transfusion due to hyper-intestinal absorption of
 iron induced by the dyserythropoiesis.

 The transmission mode for Type I and II is autosomal recessive, while it is autosomal
 dominant or sporadic for Type III.

 Several clinical questions remain concerning this disease :

 -  the median survival of patients is not well known, neither the causes of death

 -  benefit/risk of splenectomy

 -  iron overload quantification and consequences

 The idea is to stablish a French registry of congenital dyserythropoietic anemia in order to
 help to understand the correlation between phenotype and genotype of this disease.
Inclusion Criteria:

 -  Patient with confirmed CDA

 -  No opposition to the use of health data for research purposes

 Exclusion Criteria:

 -  Patient opposed to participate in the study