What is Paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and acquired hematological disorder characterized by the abnormal breakdown of red blood cells (hemolysis), leading to a deficiency of certain blood components. PNH is caused by a mutation in the PIG-A gene, which affects the production of proteins that anchor protective molecules to the surface of blood cells.

Individuals with PNH may experience a range of symptoms, including fatigue, shortness of breath, abdominal pain, dark urine, and blood clots. The condition can also lead to complications such as anemia, kidney problems, and an increased risk of infections.

Diagnosis of PNH involves various tests, including flow cytometry, which detects the absence of certain proteins on the surface of blood cells. Treatment options for PNH include blood transfusions, medications to reduce hemolysis, and targeted therapies like complement inhibitors.

Managing PNH requires a multidisciplinary approach involving hematologists, nephrologists, and other specialists. Regular monitoring and supportive care are crucial to optimize the quality of life for individuals with PNH.