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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 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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| CDA patients |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Collection of data and genetic analysis | Other | 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Percentage of mutations | Genetic analysis will be performed with whole genome and whole exome sequencing | up to three years |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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Patient with confirmed CDA
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Amélie Lansiaux, MD, PhD | Contact | 320225269 | 0033 | lansiaux.amelie@ghicl.net |
| Jean-Jacques Vitagliano, PhD | Contact | 320225751 | 0033 | vitagliano.jean-jacques@ghicl.net |
| Name | Affiliation | Role |
|---|---|---|
| Benjamin Carpentier, MD | GHICL | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital Saint-Vincent de Paul | Recruiting | Lille | Hauts-de-France | 59000 | France |
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| ID | Term |
|---|---|
| D000742 | Anemia, Dyserythropoietic, Congenital |
| ID | Term |
|---|---|
| D000745 | Anemia, Hemolytic, Congenital |
| D000743 | Anemia, Hemolytic |
| D000740 | Anemia |
| D006402 | Hematologic Diseases |
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| ID | Term |
|---|---|
| D005820 | Genetic Testing |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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serum and bone marrow
| up to three years |
| D006425 |
| Hemic and Lymphatic Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D005821 | Genetic Techniques |
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |