Diagnosis criteria of DBA (from the international consensus conference1 )
| Diagnosis 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 |
| Positive family history | |
| Minor | Elevated eADA activity |
| Congenital anomalies described in “classical” DBA | |
| Elevated HbF | |
| No evidence of another inherited bone marrow failure syndrome |
| Diagnosis 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 |
| Positive family history | |
| Minor | Elevated eADA activity |
| Congenital anomalies described in “classical” DBA | |
| Elevated HbF | |
| No evidence of another inherited bone marrow failure syndrome |