G6PD deficiency is caused by changes (mutations) to the G6PD gene. The G6PD gene has instructions on how to make the enzyme glucose-6-phosphate dehydrogenase (G6PD).
The G6PD enzyme helps turn carbohydrates into a molecule known as NADPH. NADPH helps protect cells from the harmful effects of having too much oxygen. Since red blood cells are in charge of transporting oxygen from the lungs to the rest of the body, they need a lot of NADPH to protect them. Someone who has a change in the G6PD gene doesn’t make enough G6PD enzyme and NADPH. Without enough NADPH, the red blood cells are unprotected and can break down prematurely (hemolysis). Hemolysis can lead to anemia (low blood levels), which can cause a number of different health issues.
If you would like to learn more about the genetics of G6PD deficiency, or have it in your family, speak to your doctor about a referral to see a genetic counselor. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.
Other Questions About Glucose-6-phosphate dehydrogenase (G6PD) deficiency
- Why does G6PD deficiency cause anemia?
- Who else in my family should have testing for G6PD deficiency?
- What type of sample should be taken for G6PD deficiency genetic testing?
- What treatment can help the symptoms of G6PD deficiency from getting worse?
- What is the usual abbreviation for G6PD deficiency?
