The variable manifestations of disease in pyruvate kinase deficiency and their management

Abstract excerpt

Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary non-spherocytic hemolytic anemia and results in a broad spectrum of disease. The diagnosis of PKD requires a high index of suspicion and judicious use of laboratory tests that may not always be informative, including pyruvate kinase enzyme assay and genetic analysis of the PKLR gene. A significant minority of patients with PKD have...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Blood disorders and treatments
• Share to Blood groups and transfusion
• Share to Erythrocyte Function and Pathophysiology