Diagnosis

1. Elevated erythrocyte adenosine deaminase (eADA) activity is found in approximately 85% of patients. Macrocytosis and an elevated fetal hemoglobin are supportive but not diagnostic of DBA. These parameters may be useful in avoiding potential matched related hematopoietic stem cell transplant (HSCT) donors with genotypic DBA and have been helpful in distinguishing DBA from transient erythroblastopenia of childhood (TEC) (Table 6-3).

2. Bone marrow with virtual absence of normoblasts, in some cases with relative increase in proerythroblasts or normal number of proerythroblasts with a maturation arrest; normal myeloid and megakaryocytic series.

Table 6-4 lists the diagnostic criteria for Diamond-Blackfan anemia.

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