Diamond-Blackfan anemia laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

A diagnosis of DBA is made on the basis of anemia, low reticulocyte (immature red blood cells) counts, and diminished erythroid precursors in bone marrow. Features that support a diagnosis of DBA include the presence of congenital abnormalities, macrocytosis, elevated fetal hemoglobin, and elevated adenosine deaminase levels in red blood cells. Most patients are diagnosed in the first two years of life. However, some mildly affected individuals only receive attention after a more severely affected family member is identified. About 20-25% of DBA patients may be identified with a genetic test for mutations in the RPS19 gene.

Laboratory Findings

• Increased red-cell mean corpuscular volume (MCV)
• Reticulocytopenia
• Elevated erythrocyte adenosine deaminase activity (eADA) (observed in 80%-85%)
• Elevated hemoglobin F (HbF) concentration

Bone marrow aspirate

• Normal marrow cellularity
• Erythroid hypoplasia
• Marked reduction in normoblasts
• Persistence of pronormoblasts on occasion
• Normal myeloid precursors and megakaryocytes