Paroxysmal Nocturnal Hemoglobinuria (PNH)

Understanding Paroxysmal Nocturnal Hemoglobinuria (PNH)

Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare, life-threatening blood disorder caused by a genetic mutation in the PIGA gene, which affects hematopoietic (blood-forming) stem cells. This mutation leads to the production of abnormal red blood cells (RBCs) that lack protective surface proteins, rendering them highly susceptible to destruction by the complement system—a part of the immune system. The resulting hemolysis (breakdown of RBCs) can lead to anemia, blood clotting disorders, and organ damage. PNH may occur as a standalone condition or in association with bone marrow failure syndromes, such as aplastic anemia or myelodysplastic syndromes (MDS).

Common Signs and Symptoms of PNH:

• Hemolytic Anemia:

  • Fatigue, weakness, and shortness of breath due to the reduced number of red blood cells.

• Dark Urine:

  • Urine that may appear dark, especially in the morning, due to the presence of hemoglobin from destroyed RBCs.

• Abdominal Pain:

  • Pain in the abdomen, which can be associated with hemolysis or blood clots.

• Thrombosis:

  • Increased risk of blood clots, which can lead to complications such as deep vein thrombosis or pulmonary embolism.

• Smooth Muscle Spasms:

  • Cramping or spasms in the gastrointestinal tract, which may be related to the release of hemoglobin or nitric oxide depletion.

This information is provided as a resource and is not intended to diagnose a condition or prescribe treatment. Please discuss any symptoms you may exhibit with your physician.