20 february 2017 (Monday) - G6PD

Here’s an interesting article about G6PD deficiency; 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 haemolytic anaemia 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 haemolysis.

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 haemolytic anaemia.

·         Pathophysiology and genetics of G6PD deficiency

·         Diagnostic approach to the child with haemolytic anaemia

·         Diagnostic approach to the adult with haemolytic anaemia