Diagnostic criteria | Major supporting criteria | Minor supporting criteria |
- Onset of anemia at age <1 year
- Macrocytic anemia with no other significant cytopenias
- Reticulocytopenia
- Normal marrow cellularity with a paucity of erythroid precursors
| - Presence of a known DBA gene mutation
- Positive family history
| - Elevated eADA activity
- Congenital anomalies associated with DBA*
- Elevated Hgb F
- No evidence of another inherited bone marrow failure syndrome
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Based on these criteria, the diagnosis of DBA can be established as follows: |
Classic DBA | All 4 of the diagnostic criteria are present |
Nonclassical DBA | DBA-associated gene mutation is present, but patient does not meet sufficient diagnostic criteria for classic DBA |
Probable DBA | Any of the following: - 3 diagnostic criteria plus a positive family history
- 2 diagnostic criteria and 3 minor criteria
- 3 minor criteria plus a positive family history
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