The Congenital Dyserythropoietic Anemia Registry (CDAR)
Children's Hospital Medical Center, Cincinnati
Summary
The investigators have created and maintain a comprehensive registry for patients with the diagnosis of Congenital Dyserythropoietic Anemia (CDA) in North America. The goal of this registry is to collect long-term confidential data on patients with CDA in the US, Canada, and Mexico and maintain a bio-repository of de-identified patient blood and bone marrow specimens as a tool for the investigation of epidemiology, natural history, biology, and molecular pathogenetic mechanisms of CDA.
Description
We have established and maintain a CDA registry (CDAR): a comprehensive registry of subjects with the diagnosis of any type of congenital dyserythropoietic anemia in North America. Subjects and their physicians have expressed interest in participating in a national/international registry that could promote research and further understanding of this rare disease-group. CDAs consist a heterogeneous group of rare genetic disorders causing ineffective erythropoiesis with the characteristic finding of multinuclear erythroid precursors in the bone marrow. The other hematopoietic lineages seem unaff…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- Yes
Inclusion Criteria: * Diagnosis of Congenital Dyserythropoietic Anemia (CDA), whether a genetic mutation is identified or not * Evidence of congenital anemia/jaundice or a positive family history * Evidence of ineffective erythropoiesis * Typical morphological appearance of bone marrow erythroblasts * All ages (ages 0-99) Exclusion Criteria: * Diagnosis of cancer * Myelodysplasia * Secondary dyserythropoiesis: e.g.; vitamin B12 deficiency or drug-related. Note1: Patients with rare band 3 (SLC4A1) mutations recently described to be associated with dyserythropoiesis will be eligible since th…
Location
- Cincinnati Children's Hospital Medical CenterCincinnati, Ohio