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Paroxysmal Nocturnal Haemoglobinuria (PNH) is a rare, acquired blood disorder caused by a mutation in the PIGA gene within a bone marrow stem cell. This genetic change results in deficiency of protective proteins on blood cells, making red blood cells unusually vulnerable to destruction by the complement system.

PNH can cause chronic intravascular haemolysis, leading to symptoms such as fatigue, weakness, shortness of breath, abdominal discomfort, dark-coloured urine and headaches. Some individuals also develop thrombosis, which may occur in unusual locations and can become a serious complication. Bone marrow failure, including aplastic anaemia, may coexist with PNH.

Diagnosis is primarily established using flow cytometry, which identifies blood cells lacking specific protective proteins such as CD55 and CD59. The severity and symptoms can vary considerably between individuals.

Treatment depends on disease activity and complications. Complement inhibitors, including therapies targeting C5 or C3, can significantly reduce haemolysis and improve symptoms. Supportive care may include blood transfusions, folic acid supplementation and management of thrombosis when appropriate. Bone marrow transplantation may be considered in selected patients with severe associated bone marrow failure.

With appropriate diagnosis and modern treatment, many people with PNH can achieve substantial symptom control and improved quality of life.