Paroxysmal nocturnal hemoglobinuria(PNH) is a rare disease that develops when your blood cells are formed.
It can lead to the abnormal destruction of blood cells, resulting in various symptoms.
The rare disorder causes your blood cells to develop incorrectly and malfunction.
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PNH symptoms are the noticeable effects that occur when these blood cells are not working properly.
In some cases, more severe symptoms can develop suddenly and cause life-threatening complications.
Rare or advanced symptoms of PNH include:
Common Causes
PNH is sparked by a genetic mutation.
Unlike other conditions that are triggered by genetic mutations, PNH is not inherited.
The gene mutation is acquired during your lifetime.
It affects only 1 or 2 people per million.
Who Gets PNH?
One or 2 people per million will develop PNH.
The condition affects men and women equally, and it usually develops between the ages of 35 and 40.
Some people may experience mild symptoms of PNH for decades.
The mortality rates with PNH are typically 35% at 5 years and 50% at 10 years.
The gene mutation that causes PNH occurs in several steps.
Anemias and other forms of low blood counts can lead to serious health consequences.
For example, hemolytic anemias and blood clots can be fatal.
These can be a sign of severe PNH or complications like blood clots.
If you have signs or symptoms of PNH, it’s important to tell your doctor.
Common symptoms include weakness, fatigue, and bruising or bleeding.
PNH is an acquired genetic mutation, not an inherited one.
There are other forms of anemia that can be inherited, but PHN is not one of them.
Also, not everyone with PNH has discolored urine as a symptom.
Weakness and fatigue are more common.
Cell Ther.September 2021;43(3):341-348. doi:10.1016/j.htct.2020.06.006
Icahn School of Medicine at Mount Sinai.Paroxysmal nocturnal hemoglobinuria.
National Organization for Rare Disorders.Paroxysmal nocturnal hemoglobinuria.
The Aplastic Anemia and MDS Association.Paroxysmal nocturnal hemoglobinuria (PNH).
Johns Hopkins Medicine.Aplastic anemia.
Srensen AL, Hansen DL, Frederiksen H.Early mortality in paroxysmal nocturnal hemoglobinuria.Cureus.
2023;15(10):e47225.
