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Glucose 6 Phophate Dehydrogenease is an enzyme that plays a key role in the pentose phosphate pathway ^[1]

Glucose-6-Phosphate Dehydrogenase Deficiency

Classification

The World Health Organization classifies G6PD genetic variants into five classes, the first three of which are deficiency states.^[2]

1. Severe deficiency (<10% activity) with chronic (nonspherocytic) hemolytic anemia
2. Severe deficiency (<10% activity), with intermittent hemolysis
3. Mild deficiency (10-60% activity), hemolysis with stressors only
4. Non-deficient variant, no clinical sequelae
5. Increased enzyme activity, no clinical sequelae

Symptoms

Clinical symptoms that are linked with G6PD deficiency include hemolytic aneaemia, favism, neonatal jaundice, and in severe cases can be fatal. Hemolytic anemia is the most common symptom of individuals with defects in G6PD. Individuals with hemolytic aneamia exhibit phenotypes where read blood cells are destroyed faster than the body can replace them. ^[3]

Epidemiology

G6PD Deficiency is most prevalent in tropical Africa, the Middle East, tropical and subtropical Asia and some areas of the Mediterranean. G6PD deficiency affects all races. Specifically however, highest prevalence is among individuals with African, Asian and Mediterranean heritage. Due to the X-lined nature of G6PD it primarily effects males.^{[4] [5]}