G6PD Deficiency

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency is the most common inherited enzyme deficiency in humans, affecting an estimated 400 million people worldwide. The G6PD enzyme plays a critical role in protecting red blood cells from oxidative damage. When this enzyme is deficient, red blood cells become vulnerable to destruction (hemolysis) when exposed to certain triggers.

G6PD deficiency follows an X-linked inheritance pattern, meaning males are typically more severely affected than females. The condition is particularly common in populations from Africa, the Mediterranean, the Middle East, and Southeast Asia. Interestingly, G6PD deficiency provides some protection against malaria, which explains its prevalence in malaria-endemic regions.

Most people with G6PD deficiency are asymptomatic until they encounter a trigger that causes hemolytic episodes. Common triggers include certain medications (antimalarials, sulfonamides, aspirin in high doses), fava beans (favism), infections, and other oxidative stressors. Symptoms during a hemolytic episode include sudden fatigue, rapid heartbeat, shortness of breath, dark urine, jaundice, and pallor.

The condition is caused by mutations in the G6PD gene located on the X chromosome. There are hundreds of variants causing different degrees of enzyme deficiency. Diagnosis involves measuring G6PD enzyme activity in red blood cells. Management primarily involves avoiding known triggers and supportive care during hemolytic episodes. Newborn screening programs in many regions test for this condition.

NutraHacker examines the following gene related to G6PD Deficiency:

• G6PD

For more information about your own genetic profile as related to G6PD Deficiency, please check out our NutraHacker Carrier Status and Drug Response Report.

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