Paroxysmal Nocturnal Hemoglobinuria - PNH

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, potentially life-threatening acquired stem cell disorder caused by a mutation in the PIGA gene.    The mutation leads to a lack of glycosylphosphatidylinositol (GPI)-anchored proteins on the surface of blood cells, which in turn leads to an inappropriate immune response to, and hemolysis of, these cells.    In addition to hemolysis, PNH is characterized by thrombosis and bone marrow failure.    Although some patients may present with the nocturnal hemoglobinuria for which the disease is named, the common symptoms of PNH are nonspecific (eg, fatigue, dyspnea, anemia, abdominal pain),    which presents a diagnostic challenge. A delayed or missed diagnosis prevents patients from receiving appropriate treatment and thereby decreases quality of life and impacts survival.  Laboratory testing in PNH includes flow cytometry to diagnose PNH in patients with suggestive symptoms or test results. Laboratory testing is also used to classify PNH to inform treatment, and to monitor disease progression and the effects of treatment.

Tabs Content
Content Review: 
June 2019

Last Update: June 2019