Endothelial colony-forming cells from patients with paroxysmal nocturnal haemoglobinuria are not PIGA mutated.

The article presents a study which examined the possible role of PIGA mutations for paroxysmal nocturnal haemoglobinuria (PNH) in inducing endothelial dysfunction and in affecting a common endothelial and haematopoietic progenitor cell. The endothelial colony-forming cells (ECFC) obtained from peripheral blood of a sample of patients with PNH were tested as surrogate of endothelial cell genetic status. It has found that PIGA mutations are not present in ECFC from patients with PNH.