Paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is a hematological disorder due to a defect in the glycosylphosphatidylinositol (GPI) anchor which is caused by somatic mutations of the PIGA gene. Nocturnal hemoglobinuria is the first symptom, but other hematological abnormalities up to a myelodysplastic syndrome might ensue.

Management

Eculizumab seems to be a new quite effective medicament.

Systematic

Hereditary diseases of the hematopoetic system and coagulopathies
	Aplastic anemia
	Autoimmune lymphoproliferative syndrome 5
	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
	Disorders of cobalamin metabolism
	Familial erythrocytosis 2
	Familial hemophagocytic lymphohistiocytosis
	H syndrome
	Hereditary bleeding disorders
	Hereditary malign blood disorders
	Inheritable platelet disorders
	MIRAGE syndrome
	Ovalocytosis
	Paroxysmal nocturnal hemoglobinuria
		PIGA
	Retinitis pigmentosa and erythrocytic microcytosis
	Thromboembolic diseases
	Vasculitis due to ADA2 deficiency