Peripheral circulating cells with paroxysmal nocturnal haemoglobinuria phenotype after a first episode of cerebral sinus vein thrombosis: Results fro…

2019

Paroxysmal nocturnal haemoglobinuria (PNH) is a rare, potentially fatal disorder of haematopoietic stem cells caused by mutations in an X-linked gene called phosphatidylinositol glycan class A, characterised by intravascular haemolysis, bone marrow failure and thrombotic events. The disease can occur at any age, although preferentially it affects young adults; its estimated prevalence is about 1/500,000 [1]. Clinical symptoms are variable and can include haemolytic anaemia, moderate to severe impairment of haematopoiesis and, in approximately 40% of patients, thrombosis of the vessels of the abdomen, brain and skin [2]. Rare, atypical site thrombosis of the splanchnic veins or cerebral sinu…