Glucose-6-phosphate dehydrogenase (G6PD) deficiency

Overview

What is G6PD deficiency?

G6PD deficiency is a condition that affects the red blood cells in the body. G6PD stands for glucose-6-phosphate dehydrogenase. Red blood cells have the important job of carrying oxygen throughout the body. If a blood cell has too much oxygen, however, it can harm the cell. G6PD helps to protect the cell from these harmful effects. If someone doesn't have enough G6PD, the red blood cells are unprotected and can break down too early (this is called hemolysis). Hemolysis can lead to anemia (low blood levels). Anemia can cause a number of different issues such as shortness of breath, rapid heart rate, muscle pain, jaundice, and heart attacks. The majority of the time, the anemia in G6PD deficiency is caused by an environmental trigger, such as an infection, certain medications, or eating fava beans. It is possible for someone to have G6PD deficiency and not develop anemia, because they have not been exposed to these triggers.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/anemia-nonspherocytic-hemolytic-due-to-g6pd-deficiency/overview/65581 • DATE UPDATED: 2018-02-21

References

Genetics Home Reference. (2017, May). Glucose-6-phosphate dehydrogenase deficiency. Retrieved on January 17, 2018 from https://ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency

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