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Diagnosis and management of glucose-6-phosphate dehydrogenase deficiency

Author
Bertil Glader, MD, PhD
Section Editors
Stanley L Schrier, MD
Donald H Mahoney, Jr, MD
Deputy Editor
Jennifer S Tirnauer, MD

INTRODUCTION

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited disorder caused by a genetic defect in the red blood cell (RBC) enzyme G6PD, which generates NADPH and protects RBCs from oxidative injury. G6PD deficiency is the most common enzymatic disorder of RBCs.

The severity of hemolytic anemia varies among individuals with G6PD deficiency, making diagnosis more challenging in some cases. Identification of G6PD deficiency and patient education regarding safe and unsafe medications and foods is critical to preventing future episodes of hemolysis.

This topic review discusses the clinical manifestations, diagnosis, and management of G6PD deficiency. Separate topic reviews discuss the pathogenesis of G6PD deficiency and an overall approach to the patient with unexplained hemolytic anemia.

Pathophysiology and genetics of G6PD deficiency – (See "Genetics and pathophysiology of glucose-6-phosphate dehydrogenase deficiency".)

Diagnostic approach to the child with hemolytic anemia – (See "Overview of hemolytic anemias in children".)

                             
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Literature review current through: Nov 2017. | This topic last updated: Aug 28, 2017.
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