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Paroxysmal nocturnal haemoglobinuria (PNH) is a rare acquired blood disorder caused by a genetic mutation in bone marrow stem cells. This mutation prevents blood cells from producing protective surface proteins, making red blood cells highly vulnerable to destruction by the body's complement system. Although the condition can develop at any age, it is most commonly diagnosed in young and middle-aged adults.

The hallmark feature of PNH is chronic haemolysis, where red blood cells break down prematurely. Patients may experience fatigue, weakness, dark or reddish urine, especially in the morning, shortness of breath, abdominal pain, difficulty swallowing, and persistent anaemia. PNH also increases the risk of life-threatening blood clots, particularly in unusual veins such as those in the abdomen or brain. Some individuals may develop bone marrow failure, leading to reduced production of red cells, white cells, and platelets.

Diagnosis involves specialised blood tests, including flow cytometry, which identifies the absence of protective proteins such as CD55 and CD59 on blood cells. Additional laboratory tests assess haemolysis and bone marrow function.

Treatment focuses on controlling complement-mediated haemolysis with targeted therapies such as complement inhibitors, reducing clotting risk, and managing anaemia with supportive care when needed. Early diagnosis and modern treatments have significantly improved survival and quality of life for people living with PNH.