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G6PD Deficiency & Genetics

What is G6PD deficiency?

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a disease that impacts red blood cells. An enzyme called G6PD helps protect red blood cells from damage. (An enzyme is a type of protein that helps carry out chemical reactions in the body). In people with G6PD deficiency, the G6PD enzyme doesn't work properly. As a result, red blood cells are destroyed upon exposure to certain environmental triggers, which can lead to episodes of anemia.

Is G6PD deficiency genetic?

G6PD deficiency is a genetic condition involving a gene called G6PD. The G6PD gene contains instructions for making an enzyme that plays a role in protecting red blood cells against damage. Certain genetic variants (differences) in the G6PD gene reduce the levels or activity of the enzyme. This can lead to the destruction of red blood cells in response to certain medications, infections, and foods.

The G6PD gene is located on the X chromosome, which means that males have one copy of this gene and females have two.

Who is affected?

Approximately 400 million people worldwide have G6PD deficiency. The condition occurs most frequently in people from certain parts of Africa, Asia, the Middle East, and the Mediterranean. About 1 in 10 African-American men has G6PD deficiency. Because of the way it is inherited, men are more likely to have this condition than women.

Did you know?

People with G6PD deficiency typically don't develop symptoms unless they are exposed to certain triggering factors. Triggering factors can include certain foods, medications, and infections.

Explore more

The 23andMe G6PD Deficiency Genetic Health Risk report* can tell you whether you may have an increased risk for developing symptoms of G6PD deficiency based on your genetics. The 23andMe G6PD Deficiency Genetic Health Risk report looks for one variant most common in people of African descent in the G6PD gene linked to G6PD deficiency. You can get this report and more through the 23andMe Health + Ancestry Service.

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