Fast Facts for Patients: Pyruvate Kinase Deficiency

Pyruvate kinase deficiency (PK deficiency) is a rare genetic disease that causes red blood cells to break apart easily (hemolysis). Some patients have no or few symptoms; others have very low numbers of red blood cells (hemolytic anemia) and need treatment with regular blood transfusions. Hemolysis occurs in everyone with PK deficiency. It increases the risk of complications that need monitoring, such as gallstones, iron overload, and low bone density. Treatment with mitapivat, which is taken as a tablet, activates pyruvate kinase and reduces anemia and hemolysis in about half of all adults with PK deficiency. Research into other new treatments, including gene therapy, is promising. Common supportive treatments include blood transfusions, removal of the spleen (splenectomy), and medications to remove excess iron from the blood (chelation therapy).