Diamond Blackfan anemia (DBA) was first recognized as a distinct entity in 1938. The accepted diagnostic criteria for DBA published in 1976 were:

  1. usually macrocytic anemia (a decreased number of larger than normal red blood cells)

  2. reticulocytopenia (a decreased number of new, young red blood cells)

  3. normal bone marrow cellularity with a selective deficiency in red blood cell precursors

  4. normal or slightly decreased white blood cell count

  5. normal or slightly increased platelet count

These criteria were modified in 2008 as part of the DBA International Consensus Conference to include:

Diagnostic Criteria:

  • Age less than 1 year at presentation of anemia

  • Anemia defined as low hemoglobin for age with macrocytic (large red cell size) or normocytic (normal red cell size) cells with no other significant cytopenias (relatively normal white cell and platelet numbers)

  • Reticulocytopenia (low numbers of red cell precursors)

  • Normal bone marrow cellularity with a selective deficiency of red cell precursors

Supporting Diagnostic Criteria:

Major

  • Positive family history

  • Ribosomal protein (RP) gene or GATA1 mutation identified

Minor

  • Elevated erythrocyte adenosine deaminase activity (eADA; a red cell enzyme found to be elevated in 85% of DBA patients)

  • Presence of birth defects (found in about 50% of DBA patients)

  • Elevated fetal hemoglobin (a type of hemoglobin seen in infancy but found in DBA patients after infancy)

  • No evidence of another inherited bone marrow failure syndrome

A diagnosis of classical DBA is made if all the diagnostic criteria are present. If not all the diagnostic criteria are met then an otherwise normal individual is considered as having non-classical DBA if he/she has the same RP or GATA1 mutation as the DBA patient.

A person can be assigned as having a “probable” diagnosis of DBA if:

  • 3 diagnostic criteria are present along with a positive family history; or

  • 2 diagnostic criteria and 3 minor supporting criteria are present; or

  • positive family history and 3 minor supporting criteria are evident

This information is taken from the Diamond Blackfan Anemia Registry with special permission from Dr A Vlachos. Please visit this website for up-to-date information on DBA and further topics. https://www.dbar.org/diagnosis 

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