About 6 per 1 million people are diagnosed with PNH each year.
01 | Introduction
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder that damages the red blood cells and platelets. This disease usually presents in early adulthood and continues throughout the patient’s life. People with PHN have sudden, recurring episodes of symptoms. During these episodes, the affected individual may pass dark colored urine due to the premature breakdown of red blood cells. If left untreated, PHN can lead to hemolytic anemia, chronic kidney disease, or thrombosis.
02 | Causes
PNH is caused by a mutation to the PIGA gene in a blood-forming stem cell. This mutation triggers a series of events that result in abnormal red blood cells and platelets. These abnormal red blood cells break apart prematurely, and hemoglobin is released, which causes many of the symptoms associated with PNH.
03 | Symptoms
The symptoms of PHN can vary greatly from one person to another. Some possible symptoms include:
04 | Treatment
New treatments for PNH are currently being discovered. Historically, treatment was mostly supportive, focused on managing symptoms. Individuals with this disorder would receive regular blood transfusions, iron therapy, and steroids. At that time, the average lifespan was 10 to 22 years after diagnosis. In recent years, researchers have advanced drug development for this disorder, focusing on treating the root cause and preventing red blood cell damage.
Learn More
For more information on paroxysmal nocturnal hemoglobinuria, please visit clevelandclinic.org.
References
https://my.clevelandclinic.org/health/diseases/22871-paroxysmal-nocturnal-hemoglobinuria
https://www.ncbi.nlm.nih.gov/books/NBK562292/
https://emedicine.medscape.com/article/207468-overview#a6
https://medlineplus.gov/genetics/condition/paroxysmal-nocturnal-hemoglobinuria/
https://www.mayoclinicproceedings.org/article/S0025-6196(25)00419-7/fulltext
https://www.chop.edu/conditions-diseases/paroxysmal-nocturnal-hemoglobinuria#treatment
