open access

Vol 4, No 4 (2013)
Review paper
Published online: 2014-02-06
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Paroxysmal nocturnal hemoglobinuria — pathophysiology, classification and modern diagnostics

Justyna Spychalska, Ewa Brojer
Hematologia 2013;4(4):301-320.

open access

Vol 4, No 4 (2013)
REVIEW ARTICLES
Published online: 2014-02-06

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal hematopoietic stem cell di- sease due to the somatic mutation of the PIGA gene. As a result, the clonal expansion of cells with­out glycosylphosphatidylinositol molecules (PNH clone) is observed which is associated with the lack of several proteins of different functions, including complement inhibitors CD55 and CD59. The deficiency of these proteins on erythrocyte surface is the main factor of the pathogenesis of PNH. In patients with PNH a triad of symptoms, expressed in varying degrees is observed, including hemolysis, thrombotic disorders and bone marrow failure. PNH is currently classified, taking into account clinical symptoms and the size of the defect into three groups: classical PNH, PNH clone accompanying marrow failure, and subclinical form of PNH. Modern diagnostic methods based on the flow cytometry analysis, using monoclonal antibodies, as well as FLAER reagent is essential for the detection and monitoring of PNH clone size, which has an important practical significance.

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal hematopoietic stem cell di- sease due to the somatic mutation of the PIGA gene. As a result, the clonal expansion of cells with­out glycosylphosphatidylinositol molecules (PNH clone) is observed which is associated with the lack of several proteins of different functions, including complement inhibitors CD55 and CD59. The deficiency of these proteins on erythrocyte surface is the main factor of the pathogenesis of PNH. In patients with PNH a triad of symptoms, expressed in varying degrees is observed, including hemolysis, thrombotic disorders and bone marrow failure. PNH is currently classified, taking into account clinical symptoms and the size of the defect into three groups: classical PNH, PNH clone accompanying marrow failure, and subclinical form of PNH. Modern diagnostic methods based on the flow cytometry analysis, using monoclonal antibodies, as well as FLAER reagent is essential for the detection and monitoring of PNH clone size, which has an important practical significance.

Get Citation

Keywords

paroxysmal nocturnal hemoglobinuria, hematopoietic stem cell defect, diagnosis, FLAER

About this article
Title

Paroxysmal nocturnal hemoglobinuria — pathophysiology, classification and modern diagnostics

Journal

Hematology in Clinical Practice

Issue

Vol 4, No 4 (2013)

Article type

Review paper

Pages

301-320

Published online

2014-02-06

Bibliographic record

Hematologia 2013;4(4):301-320.

Keywords

paroxysmal nocturnal hemoglobinuria
hematopoietic stem cell defect
diagnosis
FLAER

Authors

Justyna Spychalska
Ewa Brojer

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