Diamond Blackfan Anemia Registry (DBAR)
Northwell Health
Summary
The purpose of this study is to maintain a comprehensive registry of patients with the rare inherited bone marrow failure syndrome Diamond Blackfan anemia (DBA).
Description
BACKGROUND: Diamond Blackfan anemia (DBA) is a heterogeneous genetic disorder characterized by pure red cell aplasia, congenital anomalies, a predisposition to pancytopenia and myelodysplasia as well as hematopoietic and non-hematopoietic cancer. Anemia usually presents in infancy or early childhood and greater than 40% of patients have at least one congenital anomaly. The actuarial cancer risk is, as of yet, undetermined. One DBA gene has been cloned and the existence of at least two other DBA genes has been inferred by linkage analysis. Penetrance and expressivity of DBA genes are highly va…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Patients must meet the diagnostic criteria for DBA which include the following: 1. Normochromic, usually macrocytic and occasionally normocytic anemia developing early in childhood 2. Reticulocytopenia 3. Normocellular bone marrow with a selective deficiency of red cell precursors 4. Normal or slightly decreased leukocyte count 5. Normal or often increased platelet count 6. Or, a confirmed mutation in one of the identified DBA genes Exclusion Criteria: * Any subject identified as having another bone marrow failure syndrome (eg. Fanconi anemia, dyskeratosis…
Location
- Cohen Children's Medical Center of NYNew Hyde Park, New York