Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometry

Margarida Lima

doi:10.1016/j.plabm.2020.e00158

Laboratory studies for paroxysmal nocturnal hemoglobinuria, with emphasis on flow cytometry

Pract Lab Med. 2020 Mar 10:20:e00158. doi: 10.1016/j.plabm.2020.e00158. eCollection 2020 May.

Author

Margarida Lima^{1

2}

Affiliations

¹ Laboratório de Citometria, Unidade de Diagnóstico Hematológico, Serviço de Hematologia Clínica, Hospital de Santo António (HSA), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal.
² Unidade Multidisciplinar de Investigação Biomédica, Instituto de Ciências Biomédicas da Universidade do Porto (UMIB/ICBAS/UP), Porto, Portugal.

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal hematopoietic stem cell disorder caused by somatic mutations in the PIG-A gene, leading to the production of blood cells with absent or decreased expression of glycosylphosphatidylinositol-anchored proteins, including CD55 and CD59. Clinically, PNH is classified into three variants: classic (hemolytic), in the setting of another specified bone marrow disorder (such as aplastic anemia or myelodysplastic syndrome) and subclinical (asymptomatic). PNH testing is recommended for patients with intravascular hemolysis, acquired bone marrow failure syndromes and thrombosis with unusual features. Despite the availability of consensus guidelines for PNH diagnosis and monitoring, there are still discrepancies on how PNH tests are carried out, and these technical variations may lead to an incorrect diagnosis. Herein, we provide a brief historical overview of PNH, focusing on the laboratory tests available and on the current recommendations for PNH diagnosis and monitoring based in flow cytometry.

Keywords: Bone marrow failure syndromes; Flow cytometry; Glycosylphosphatidylinositol; Intravascular hemolysis; PNH; Paroxysmal nocturnal hemoglobinuria.

Publication types

Review