RecruitingNCT00106015

Diamond Blackfan Anemia Registry (DBAR)

Sponsor

Northwell Health

Enrollment

900 participants

Start Date

Sep 1, 2004

Study Type

OBSERVATIONAL

Conditions

Anemia Blood Disease

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).

Eligibility

Inclusion Criteria7

Patients must meet the diagnostic criteria for DBA which include the following:
Normochromic, usually macrocytic and occasionally normocytic anemia developing early in childhood
Reticulocytopenia
Normocellular bone marrow with a selective deficiency of red cell precursors
Normal or slightly decreased leukocyte count
Normal or often increased platelet count
Or, a confirmed mutation in one of the identified DBA genes

Exclusion Criteria1

Any subject identified as having another bone marrow failure syndrome (eg. Fanconi anemia, dyskeratosis congenita, Shwachman Diamond syndrome, etc.) will be excluded.

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