Cause 4: Paroxysmal Nocturnal Hemoglobinuria (PNH)
A Rare and Potentially Life-threatening Blood Disorder
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired blood disorder characterized by the destruction of red blood cells, white blood cells, and platelets. This condition is caused by a genetic mutation in the PIG-A gene, which leads to a deficiency of specific proteins that protect blood cells from the immune system’s attack.
In PNH, the affected blood cells are more susceptible to being destroyed by a component of the immune system called the complement system. This destruction, particularly of red blood cells, results in hemolytic anemia, along with other symptoms such as blood clots, kidney dysfunction, and an increased risk of infections.
The severity and progression of PNH can vary significantly between individuals. Treatment options for PNH include immunosuppressive therapy, blood transfusions, anticoagulants, and a medication called eculizumab, which blocks the complement system’s activity. In some cases, a bone marrow transplant may be considered for severe cases or those who do not respond to other treatments.
Early diagnosis and appropriate management of PNH are essential in reducing the risk of complications and improving the patient’s quality of life. (4)
