Paroxysmal Nocturnal Hemoglobinuria (PNH)

Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare acquired blood disorder characterized by the destruction of red blood cells (hemolysis), leading to symptoms such as fatigue, shortness of breath, and dark-colored urine, especially noticeable in the morning. PNH arises from a mutation in the hematopoietic stem cells affecting the PIGA gene, which causes a deficiency of specific proteins (CD55 and CD59) necessary to protect red blood cells from destruction by the complement system of the immune response. This leads to intravascular hemolysis and anemia.

Besides hemolysis, patients may experience complications like thrombosis (blood clots), bone marrow failure, and renal impairment. The disease predominantly affects young adults and can severely affect quality of life. Treatment advances, including the use of the monoclonal antibody eculizumab, have improved survival and reduced complications by targeting the complement pathway. Bone marrow transplantation remains the only potential cure but carries significant risks. PNH's rarity and complexity necessitate specialized care and ongoing management to address symptoms and prevent life-threatening complications.