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DEFINITION

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  • 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.

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CLASSIFICATION

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Table Graphic Jump Location
TABLE 4–1CLASSIFICATION OF PURE RED CELL APLASIA
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INHERITED PURE RED CELL APLASIA (DIAMOND-BLACKFAN ANEMIA)

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

  • It has an estimated annual incidence of five cases per 1 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, mutations involve the RPS19 gene in about 25% of cases; several other genes that regulate ribosome assembly have been implicated.

  • Pathophysiology is unclear.

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Clinical Features

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  • 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.

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Laboratory Features

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  • 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.

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Differential Diagnosis

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  • 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 by spontaneous recovery.

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Therapy, Course, and Prognosis

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