Fast Facts: Pyruvate Kinase Deficiency

Pyruvate kinase (PK) deficiency is an inherited disorder affecting red blood cells that causes hemolytic anemia. It is a lifelong condition with symptoms ranging from mild to severe. Although research has expanded understanding of its pathophysiology, etiology, and epidemiology, PK deficiency remains unfamiliar to many medical practitioners. Because PK deficiency is clinically heterogeneous, healthcare professionals should consider this disorder as a possibility in all patients presenting with congenital hemolytic anemia.