[Expert consensus on the diagnosis and treatment of pyruvate kinase deficiency].

Abstract excerpt

Pyruvate kinase deficiency (PKD) is a rare autosomal recessive disorder caused by mutations in the PKLR gene, encoding erythrocyte pyruvate kinase, which affects erythrocyte energy production, and then in turn affects erythrocyte function and longevity. PKD is characterized by chronic hemolytic anemia, and other features include chronic hemolytic complications, such as iron overload, decreased bone mineral...

Topics

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

• Share to Anemia, Hemolytic, Congenital Nonspherocytic
• Share to Consensus
• Share to Erythrocyte Transfusion