Pure Red Cell Aplasia Differential Diagnoses

Updated: May 03, 2017
  • Author: Paul Schick, MD; Chief Editor: Emmanuel C Besa, MD  more...
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DDx

Diagnostic ConsiderationsPearson syndrome

The classical presentation of pure red cell aplasia (PRCA) is with a normocytic anemia and a reticulocyte count of less than 1%. Bone marrow studies reveal a normocellular marrow with an absence of erythroblasts. Maturation arrest is evidenced by the presence of more immature erythrocyte progenitors.

When the results of those laboratory studies are not consistent with classical PRCA, a workup to identify other anemias should be done. If macrocytosis or microcytosis is evident, appropriate diagnostic tests should be indicated. Examination of peripheral smears and bone marrow is important. For discussion of the workup in such cases, see Anemia.

Pearson marrow-pancreas syndrome (PS) and congenital PRCA (Diamond-Blackfan anemia [DBA]) share several features, including the following:

  • Early onset of severe anemia
  • Variable nonhematologic manifestations
  • Sporadic genetic occurrence
  • Occasional spontaneous hematologic improvement

Consequently, patients with presumptive DBA should be tested for mitochondrial DNA (mtDNA) deletion during their initial genetic evaluation, to rule out PS. [10]