PNH stands for Paroxysmal Nocturnal Hemoglobinuria. It is a rare and life-threatening blood disorder characterized by the premature destruction of red blood cells, increased risk of blood clot formation, and bone marrow failure. This condition is caused by a genetic mutation in the PIG-A gene, which is responsible for making a protein that anchors several important proteins to the cell surface, including those that protect red blood cells from the immune system.
PNH typically presents with several symptoms, including fatigue, weakness, shortness of breath, pale skin, dark urine, and abdominal pain. These symptoms are often aggravated during periods of physical exertion, stress, or at night. The destruction of red blood cells in PNH occurs primarily in the spleen, leading to a decreased red blood cell count and subsequent anemia.
Diagnosis of PNH is usually confirmed through specific laboratory tests, such as flow cytometry, that detect decreased expression of certain cell surface markers on red blood cells. This helps differentiate PNH from other causes of anemia.
Treatment for PNH aims to manage symptoms, prevent complications, and improve overall quality of life. Options include blood transfusions to address anemia, anticoagulant medications to prevent blood clot formation, and immunosuppressive therapy to reduce the destruction of red blood cells. In severe cases, a stem cell transplant may be considered as a potential cure.
Due to its rarity and potentially severe complications, individuals with PNH are often managed by a specialized team of hematologists and may require long-term monitoring and support.
