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<p>Paroxysmal nocturnal hemoglobinuria (PNH) and aplastic anemia (AA) are closely related syndromes of bone marrow failure that share analogous immunopathogenic mechanisms. PNH occurs due to somatic mutations in the X-linked PIGA gene, leading to glycosylphosphatidylinositol (GPI)-deficient hematopoietic stem cells that evade immune- mediated destruction in AA. The prevalence of PNH clones in AA varies geographically by age and disease severity, but it lies between 30% and 70%. Finding these clones with high- sensitivity flow cytometry, is essential for definitive diagnoses, prognosis, and treatment options. PNH clones serve as prognostic markers for the response to immunosuppressive therapy, indicate the risk of progression to classical hemolytic PNH, and outline monitoring strategies for hemolysis, thrombosis, and clonal evolution. The use of molecular tests, like next-generation sequencing, enhances risk assessment better and assists in determining the difference between inherited bone marrow failure syndromes and hypocellular myelodysplastic syndromes. Comprehending the dynamic interaction between immune-mediated marrow injury and clonal expansion improves clinical management, enhances treatment efficacy, and facilitates long-term monitoring of patients with AA. This chapter presents a comprehensive discussion of the epidemiology, pathophysiology, diagnostic methodologies, clinical implications, and management considerations of PNH clones within the frame work of aplastic anemia.</p>

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Paroxysmal Nocturnal Hemoglobinuria Clones in Aplastic Anemia: Pathophysiology, Diagnostic Approach and Clinical Implications – A Comprehensive Review

  • 期刊论文

  • 发表日期：

    2026年5月30日

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  • Anurag Singh,
  • Aritra Saha,
  • Rashmi Kushwaha

摘要

Paroxysmal nocturnal hemoglobinuria (PNH) and aplastic anemia (AA) are closely related syndromes of bone marrow failure that share analogous immunopathogenic mechanisms. PNH occurs due to somatic mutations in the X-linked PIGA gene, leading to glycosylphosphatidylinositol (GPI)-deficient hematopoietic stem cells that evade immune- mediated destruction in AA. The prevalence of PNH clones in AA varies geographically by age and disease severity, but it lies between 30% and 70%. Finding these clones with high- sensitivity flow cytometry, is essential for definitive diagnoses, prognosis, and treatment options. PNH clones serve as prognostic markers for the response to immunosuppressive therapy, indicate the risk of progression to classical hemolytic PNH, and outline monitoring strategies for hemolysis, thrombosis, and clonal evolution. The use of molecular tests, like next-generation sequencing, enhances risk assessment better and assists in determining the difference between inherited bone marrow failure syndromes and hypocellular myelodysplastic syndromes. Comprehending the dynamic interaction between immune-mediated marrow injury and clonal expansion improves clinical management, enhances treatment efficacy, and facilitates long-term monitoring of patients with AA. This chapter presents a comprehensive discussion of the epidemiology, pathophysiology, diagnostic methodologies, clinical implications, and management considerations of PNH clones within the frame work of aplastic anemia.