[History of paroxysmal nocturnal hemoglobinuria].

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal somatic stem cell disorder characterized by intravascular hemolysis, hypercoaguability, and bone marrow failure. Hemolysis is attributed to somatic mutations in the PIG-A gene responsible for the formation of the glycosylphosphatidylinositol (GPI) anchor, that binds CD 59 and CD 55 to the membrane surface. Their absence from the red cell leads to hemolysis whenever complement is activated. PIG-A gene mutations are not sufficient per se for the development of PNH. The history of PNH is a fascinating story depicting the development of our knowledge of the disease since the first clinical description by Paul Strübing in 1882 till the elucidation of the hemolysis on the molecular level. The article describe the historical steps of this process. The pathogenesis of PNH has been significantly elucidated in the last years, but many questions remain to be clarified.