Paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria is a rare, acquired clonal disorder of hematopoietic stem cells primarily affecting the hematologic and vascular systems in adults It is caused by somatic mutations in the X-linked *PIGA* gene, which leads to a deficiency of glycosylphosphatidylinositol (GPI) anchors and the subsequent loss of surface complement regulatory proteins, notably CD55 and CD59 This absence leaves erythrocytes vulnerable to unchecked complement-mediated destruction, driving chronic i...

Paroxysmal nocturnal hemoglobinuria is a rare, acquired clonal disorder of hematopoietic stem cells primarily affecting the hematologic and vascular systems in adults Clinically, the disease is characterized by a classic triad of hemolytic anemia, an elevated propensity for venous and arterial thrombosis, and varying degrees of bone marrow failure, often presenting with hemoglobinuria, fatigue, and organ damage

It is caused by somatic mutations in the X-linked *PIGA* gene, which leads to a deficiency of glycosylphosphatidylinositol (GPI) anchors and the subsequent loss of surface complement regulatory proteins, notably CD55 and CD59 This absence leaves erythrocytes vulnerable to unchecked complement-mediated destruction, driving chronic intravascular hemolysis