Paroxysmal nocturnal haemoglobinuria, or PNH, is a rare, haematologic disorder caused by a mutation in the PIGA gene in haematopoietic stem cells. PNH is characterised by complement dysregulation, causing chronic haemolysis leading to haemolytic anaemia and fatigue, smooth muscle dystonia and sometimes even fatal thromboembolic events.1
Presents with haemolytic anaemia, fatigue, thrombosis, smooth muscle dystonia and other manifestations1,2
Results from the PIGA mutation,2,4,5 which disrupts the anchoring of complement regulatory proteins on the surface of PNH blood cells3,6
Flow cytometry using antibodies against GPI-anchored proteins is the most sensitive assay for the diagnosis of PNH7
PNH blood cells are vulnerable to complement-mediated lysis, which can be inhibited by targeting the terminal or proximal complement pathways4,8
Learn more about the PNH Disease
and explore other PNH resources
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