Skip to Main Content

We have a new app!

Take the Access library with you wherever you go—easy access to books, videos, images, podcasts, personalized features, and more.

Download the Access App here: iOS and Android


  • Pure red cell aplasia describes isolated anemia secondary to failure of erythropoiesis. Cardinal findings are a low hemoglobin level combined with reticulocytopenia and absent or extremely infrequent marrow erythroid precursors.




  • This form of pure red cell aplasia, which occurs in infancy and early childhood, is also known as either Diamond-Blackfan or Blackfan-Diamond anemia.

  • It has an estimated annual incidence of five cases per one million live births.

  • Inheritance is usually autosomal dominant or occasionally autosomal recessive if a familial pattern. Sporadic cases are most frequent.

  • In this disease of abnormal ribosomal biogenesis, a genetic etiology can be identified in approximately 65% of cases. Mutations involve the RPS19 gene in approximately 25% of cases; several other genes that regulate ribosome assembly have been implicated.

  • Pathophysiology is unclear.

Clinical Features

  • Presenting symptoms include pallor, listlessness, poor appetite, and failure to thrive.

  • One-third of patients are diagnosed at birth or in the early neonatal period, but the disease may appear at any time into adulthood.

  • Physical abnormalities occur in one-third of patients (eg, craniofacial dysmorphism, short stature, abnormalities of the thumb, web neck, and urogenital and cardiac abnormalities).

  • Disease may progress to severe anemia, with cardiac failure, dyspnea, and hepatosplenomegaly.

Laboratory Features

  • Absolute severe reticulocytopenia occurs in all cases.

  • Normocytic, occasionally macrocytic, normochromic anemia is found.

  • Leukocyte count is normal or slightly decreased. Neutropenia may develop over several years.

  • Platelet count is normal or mildly increased.

  • Marrow is cellular but with marked erythroid hypoplasia. The few erythroid cells present may have megaloblastic changes. Other marrow cells are normal.

  • Serum iron levels are elevated and transferrin saturation is increased.

  • Erythropoietin levels are elevated.

  • Erythrocyte adenosine deaminase activity is elevated in 75% of patients.

Differential Diagnosis

  • Characteristic triad includes anemia, reticulocytopenia, and paucity/absence of marrow erythroid precursors. Findings are supplemented by increased erythrocyte adenosine deaminase activity and RPS19 gene mutations.

  • Fanconi anemia can be excluded by cytogenetic and gene mutation analyses.

  • Transient erythroblastopenia of childhood is established ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.