Pure Red Cell Aplasia

Excerpt

Pure red cell aplasia (PRCA) is a rare disorder that presents with anemia secondary to the failure of erythropoiesis. It is characterized by normocytic, normochromic anemia, associated with reticulocytopenia in the peripheral blood and absent or infrequent erythroblasts in the bone marrow. It is distinct from aplastic anemia in having intact precursors for platelets and leukocytes, which are normal in number and morphology in the peripheral blood. Kaznelson first described PRCA in 1922. The congenital (or inherited) form of PRCA, also called Diamond-Blackfan syndrome, was first described by Joseph in 1936 and subsequently by Diamond and Blackfan in 1938. The association of PRCA with thymoma led to the discovery of the autoimmune mechanisms involved in the pathogenesis of this rare disease. PRCA has been the object of much laboratory research not only due to the immune mechanisms involved in the destruction of the red blood cells but also because of its association with parvovirus B19 in patients with sickle cell disease. However, due to the rarity of the disease, PRCA can never be evaluated in large controlled clinical trials. As a result, the majority of recommendations have their basis on retrospective trials or anecdotal case reports.