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In this chapter, we discuss pathophysiologic underpinnings, diagnosis, and management of two immune-mediated disorders of the bone marrow: paroxysmal nocturnal hemoglobinuria (PNH) and pure red cell aplasia (PRCA). PNH results from clonal expansion of hematopoietic stem cells which have acquired a somatic mutation in the X-linked PIGA gene and occurs as a mechanism of escape from an autoimmune attack. Manifestations of PNH include complement-mediated hemolytic anemia, bone marrow failure, thromboembolism, and smooth muscle dystonia. We detail classification of PNH clones, identification and management of persistent anemia including breakthrough hemolysis, and mechanisms of the terminal and new proximal complement inhibitors. Acquired PRCA leads to isolated anemia with absent or virtually absent erythrocyte precursors, stemming from self-reactive T-cell and/or antibody-mediated destruction of early erythroid precursors. We discuss inherited PRCA (Diamond-Blackfan Anemia), viral-related transient red cell aplasia typically following B19 Parvovirus infection, diopathic and secondary forms of PRCA. Diagnostic work-up, associations, and treatment paradigms are explored through the questions.

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Pure Red Blood Cell Aplasia and Paroxysmal Nocturnal Hemoglobinuria

  • 章节

  • 发表日期：

    2026年

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  • Gloria F. Gerber,
  • Amy E. DeZern

摘要

In this chapter, we discuss pathophysiologic underpinnings, diagnosis, and management of two immune-mediated disorders of the bone marrow: paroxysmal nocturnal hemoglobinuria (PNH) and pure red cell aplasia (PRCA). PNH results from clonal expansion of hematopoietic stem cells which have acquired a somatic mutation in the X-linked PIGA gene and occurs as a mechanism of escape from an autoimmune attack. Manifestations of PNH include complement-mediated hemolytic anemia, bone marrow failure, thromboembolism, and smooth muscle dystonia. We detail classification of PNH clones, identification and management of persistent anemia including breakthrough hemolysis, and mechanisms of the terminal and new proximal complement inhibitors. Acquired PRCA leads to isolated anemia with absent or virtually absent erythrocyte precursors, stemming from self-reactive T-cell and/or antibody-mediated destruction of early erythroid precursors. We discuss inherited PRCA (Diamond-Blackfan Anemia), viral-related transient red cell aplasia typically following B19 Parvovirus infection, diopathic and secondary forms of PRCA. Diagnostic work-up, associations, and treatment paradigms are explored through the questions.