Diamond-Blackfan anemia laboratory findings

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

Laboratory findings consistent with the diagnosis of DBA include low reticulocyte (immature red blood cells) counts and diminished erythroid precursors in the bone marrow. Blood tests, genetic tests, and bone marrow aspiration could help in the diagnosis of DBA.

• Increased red-cell mean corpuscular volume (MCV)
• Reticulocytopenia
• Elevated erythrocyte adenosine deaminase activity (eADA)
  • DBA is associated with an increased ADA activity 30– 33%. ADA is a critical enzyme of the purine salvage pathway, which enables the deamination of adenosine in inosine and 2′-deoxyadenosine deamination in deoxyinosine. It is also increased in some leukemias, lymphomas, and immune system disorders.^{[1] [2]}
• Elevated hemoglobin F (HbF) concentration

1. A sequence analysis of RPS19 is performed first.

2. If no pathogenic variant in RPS19 is found, perform sequence analysis of the remaining pathologic variants which are known to cause DBA or other gene mutations.^[3]

• Normal marrow cellularity
• Erythroid hypoplasia
• Marked reduction in normoblasts
• Persistence of pronormoblasts on occasion
• Normal myeloid precursors and megakaryocytes^[3]