What is it?

Paroxysmal nocturnal hemoglobinuria is a rare life-threatening disease. This condition is acquired and characterized by the destruction of red blood cells, called hemolytic anemia, blood clots (thrombosis), and impaired bone marrow function. It is usually diagnosed in young adults and rarely diagnosed in children. People who have this condition suffer from sudden episodes that could be triggered by stress, infection or physical activity. People with PNH are prone to develop leukemia. This disease is caused by somatic mutations in hematopoietic stem cells.

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Additional names

This group contains additional names:
- Paroxysmal nocturnal hemoglobinuria

Signs & symptoms

During an episode of nocturnal hemoglobinuria, symptoms may include fatigue, weakness, pallor, dark urine, shortness of breath and rapid heart rate. Another possible symptom is recurrent infection.

Diagnosis

Diagnosis of paroxysmal nocturnal hemoglobinuria is based upon findings from physical examination, medical history and lab tests including flow cytometry, which can identify cells that are missing the proteins which lack in this condition.

Treatment

Treatment of PNH is by a drug called eculizumab, which is a monoclonal antibody that binds to proteins in the blood that can destroy red blood cells. Also, in some cases it goes away spontaneously.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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