Registry of Congenital Dyserythropoietic Anemia

Study Overview
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Brief Summary
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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.

Official Title
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French National Registry of Congenital Dyserythropoietic Anemia

Conditions
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Congenital Dyserythropoietic Anemia

Intervention / Treatment
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* Other: Collection of data and genetic analysis


Participation Criteria
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Eligibility Criteria
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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
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| CDA patients<br> | Other: Collection of data and genetic analysis<br>* Data collected are: History of disease, medical history, family medical history, biological results, Imaging results, disease progression Genetic analysis will be performed with whole genome and whole exome sequencing<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Percentage of mutations | Genetic analysis will be performed with whole genome and whole exome sequencing | up to three years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Median survival |  | up to three years | 
| Prevalence of different causes of death |  | up to three years | 
| Rate of Interferon treatment efficacy |  | up to three years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Congenital Dyserythropoietic Anemia, French registry