Glucose 6-phosphate dehydrogenase deficiency (G6PD)

A large number mutations exist associated with a mild enzyme deficiency leading to intermittent hemolysis with oxidant exposure or a more severe deficiency with a chronic hemolytic anemia.

Also called favism.

Glucose-6-phosphate dehydrogenase deficiency, which causes nonimmune hemolytic anemia in response to a number of causes, most commonly infection or exposure to certain medications, chemicals, or foods. 

Most common human enzymopathy.

5-20% of the population of some Mediterranean, Asian and African countries have G6PD deficiency.

The degree of G6PD deficiency varies among patients and the most severe cases are found in the Mediterranean area.

Worldwide 200 million individuals have G6PD deficiency.

Incidence in Asia is 0.1-14%.

Catalyst for the initiation of the pentose phosphate pathway with the conversion of glucose-6-phosphate to 6-phosphogluconate.

Deficient red blood cells have limited ability to generate nicotinamide adenine dinucleotide phosphate (NADP) and the reduced form NADPH, resulting in an increased vulnerability to oxidative stress.

Various drugs, foods and stress conditions can induce an acute intravascular hemolysis, by the formation of free radicals.

Factors associated with hemolysis in patients with infections, fava beans and drugs including: acetanilide, nalidixic acid, naphthalene, nitrofurantoin, pamaquine, phenazopyridine, phenyl hydrazine, primaquine, sulfacetamide, sulfamethoxazole, sulfanilamide, sulfa pyridine, olivine blue, and dapsone.

Patients with G6PD deficiency are at  elevated risk for hemolysis and methemoglobinemia.

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