Table I.

Diagnosing Diamond Blackfan Anemia

Classical Diagnostic criteria

Age less than 1 year

Macrocytic anemia with no other significant cytopenias

Reticulocytopenia

Normal marrow cellularity with a paucity of erythroid precursors

Supporting criteria

Major

Gene mutation described in “classical” DBA (currently RPS19, 24 and17 and RPL35a, 5 and 11)

Positive family history

Minor

Elevated erythrocyte adenosine deaminase (eADA) activity

Congenital anomalies described in “classical” DBA

Elevated fetal hemoglobin

No evidence of another inherited bone marrow failure syndrome