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Pure red cell aplasia is the diagnosis applied to isolated anemia secondary to failure of erythropoiesis. Cardinal findings are a low hemoglobin level, reticulocytopenia, and absent or extremely infrequent erythroid precursor cells in the marrow. Historical names for pure red cell aplasia include erythroblast hypoplasia, erythroblastopenia, red cell agenesis, hypoplastic anemia, and aregenerative anemia. Aplastic anemia confers the same meaning, of course, but is applied to pancytopenia and an empty marrow (see Chap. 34). Pure red cell aplasia was first separated from aplastic anemia by Kaznelson in 1922. The association of red cell aplasia and thymoma interested physicians in the 1930s and ultimately led to laboratory studies linking pure red cell aplasia to immune mechanisms, including the early identification of antierythroid precursor cell antibodies by Krantz, and later characterization of T cells that inhibited erythropoiesis. Red cell aplasia was recognized in the 1940s as an acute and life-threatening complication of sickle cell disease and other hemolytic anemias, presaging the role of a specific virus in the etiology of both acute and chronic erythropoietic failure. Despite its infrequency, pure red cell aplasia has been a subject of much laboratory research because of its link to an immune mechanism of erythropoietic failure and as a manifestation of parvovirus B19 infection and destruction of marrow red cell progenitors. However, because of its infrequency, pure red cell aplasia has not been the subject of large or controlled clinical trials; as a result, therapeutic recommendations are based on single cases or small series.

Acronyms and Abbreviations

Acronyms and abbreviations that appear in this chapter include: BFU-E, burst-forming unit–erythroid; CD20, a cluster differentiation expressed on the surface of all mature B cells; CFU-E, colony-forming unit–erythroid; CLL, chronic lymphocytic leukemia; Ig, immunoglobulin; IL-3, interleukin 3; LGL, large granular lymphocytic leukemia; NK, natural killer cells; RPS14, RPS19, genes for the ribosomal subunit proteins; T-cell, thymus-derived lymphocyte.

Definition and History

Anemia in infancy and early childhood associated with absent reticulocytes in the blood and erythroid precursor cells in the marrow was described by Joseph1 in 1936 as a “failure of erythropoiesis” and by Diamond and Blackfan2 in 1938 as “congenital hypoplastic anemia.” Gasser3 first reported a response of a patient to glucocorticoids in 1951, and Diamond and associates4 presented a series of treated patients. Genetic linkage studies have identified a causative mutated gene in a subset of patients with inherited red cell aplasia.5 Hundreds of cases have been reported, and many excellent reviews have been published.6–15 Although Joseph was the first to describe the disorder, the anemia invariably is referred to as either Blackfan-Diamond or Diamond-Blackfan anemia.

Etiology and Pathogenesis

An annual incidence of 5 cases per 1 million livebirths has been estimated from registry data.16 Well-characterized pedigrees are consistent with an autosomal dominant or, less often, recessive inheritance pattern. Sporadic cases are seen most ...

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