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<p>Paroxysmal nocturnal haemoglobinuria (PNH) is a disorder of haematopoietic stem cells that arises when these cells acquire a somatic mutation in the X-linked PIGA gene, which is essential for producing the glycosylphosphatidylinositol (GPI) anchor. As a result, affected stem cells lack all GPI-anchored proteins(GPI-AP). Patients typically present with haemolytic anaemia, bone marrow dysfunction, and an increased risk of thrombosis. Diagnosis relies on flow cytometric detection of GPI-anchored protein expression on circulating blood cells, complemented by bone marrow assessment. PNH frequently coexists with aplastic anaemia (AA) and, to a lesser extent, with low-risk myelodysplastic neoplasms (MDS). Thrombotic events remain the leading cause of death and disability in affected individuals. Terminal complement inhibition is the standard therapy for controlling intravascular haemolysis and reducing thrombotic risk, though it does not correct the underlying marrow failure. This review focuses on identifying PNH clones in the setting of aplastic anaemia and outlines the current flow cytometric approach recommended in recent guidelines.</p><p>Learning objectives:</p><p>1. Explain the biological link between PNH and aplastic anaemia.</p><p>2. Recognise clinical scenarios where PNH testing should be performed, especially in bone marrow failure.</p><p>3. Understand flow cytometry principles used in PNH diagnosis, including FLAER-based and multi-lineage strategies.</p><p>4. Apply guideline-based recommendations for reporting and monitoring PNH clones in AA.</p>

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Diagnosis of Paroxysmal Nocturnal Hemoglobinuria (PNH) in Aplastic Anemia

  • 期刊论文

  • 发表日期：

    2026年6月1日

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  • Tathagata Chatterjee,
  • Gurpreet Kaur,
  • Ankur Ahuja

摘要

Paroxysmal nocturnal haemoglobinuria (PNH) is a disorder of haematopoietic stem cells that arises when these cells acquire a somatic mutation in the X-linked PIGA gene, which is essential for producing the glycosylphosphatidylinositol (GPI) anchor. As a result, affected stem cells lack all GPI-anchored proteins(GPI-AP). Patients typically present with haemolytic anaemia, bone marrow dysfunction, and an increased risk of thrombosis. Diagnosis relies on flow cytometric detection of GPI-anchored protein expression on circulating blood cells, complemented by bone marrow assessment. PNH frequently coexists with aplastic anaemia (AA) and, to a lesser extent, with low-risk myelodysplastic neoplasms (MDS). Thrombotic events remain the leading cause of death and disability in affected individuals. Terminal complement inhibition is the standard therapy for controlling intravascular haemolysis and reducing thrombotic risk, though it does not correct the underlying marrow failure. This review focuses on identifying PNH clones in the setting of aplastic anaemia and outlines the current flow cytometric approach recommended in recent guidelines.

Learning objectives:

1. Explain the biological link between PNH and aplastic anaemia.

2. Recognise clinical scenarios where PNH testing should be performed, especially in bone marrow failure.

3. Understand flow cytometry principles used in PNH diagnosis, including FLAER-based and multi-lineage strategies.

4. Apply guideline-based recommendations for reporting and monitoring PNH clones in AA.