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PNH – Mode of disease

PNH – Mode of disease

PNH occurs as a result of somatic mutations in the PIGA gene, which lead to mature blood cells with defective surface expression of various GPI-anchored proteins, such as complement decay-accelerating factor (also known as CD55) and CD59 glycoprotein (CD59).1

The loss of CD55 and CD59 renders PNH erythrocytes susceptible to intravascular haemolysis, which can lead to thrombosis and to much of the morbidity and mortality of PNH.1

  1. Hill A, DeZern AE, Kinoshita T & Brodsky RA. Paroxysmal nocturnal haemoglobinuria. Nat Rev Dis Primers 2017;3:17028.

GPI: Glycosylphosphatidylinositol; PNH: Paroxysmal nocturnal haemoglobinuria

Job code: PP-17757 | Date of preparation: March 2023

Intended for healthcare professional only