Diagnostic criteria for Diamond-Blackfan anemia

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
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

DBA: Diamond-Blackfan anemia; eADA: erythrocyte adenosine deaminase; Hgb F: fetal hemoglobin.
* Congenital anomalies in DBA mainly involve the head, neck, and upper limb (ie, craniofacial abnormalities, thumb abnormalities). Other findings may include ophthalmologic anomalies, cardiac anomalies, genitourinary malformations, and growth failure. Refer to UpToDate's topic on DBA for additional details.

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Diagnostic criteria for Diamond-Blackfan anemia