Paroxysmal nocturnal haemoglobinuria

Somatic PIGA mutations in haematopoietic stem cells generate erythrocytes that are deficient in glycosylphosphatidylinositol-anchored proteins. These erythrocytes are susceptible to haemolysis by complement activation, which manifests as paroxysmal nocturnal haemoglobinuria. This PrimeView illustrates the complex pathological mechanisms.

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Paroxysmal nocturnal haemoglobinuria. Nat Rev Dis Primers 3, 17029 (2017). https://doi.org/10.1038/nrdp.2017.29

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