(Glucose-6-phosphate Dehydrogenase Deficiency)
Glucose-6-phosphate dehydrogenase deficiency facts*
*Glucose-6-Phosphate Dehydrogenase Deficiency Facts by John P. Cunha, DO, FACOE
- Glucose-6-phosphate dehydrogenase deficiency (also called G6PD Deficiency) is a genetic disorder that mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. A defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely (hemolysis).
- This can cause hemolytic anemia, which can lead to symptoms of paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, and a rapid heart rate.
- Factors such as infections, certain drugs, or ingesting fava beans can increase the levels of reactive oxygen species, causing red blood cells to be destroyed faster than the body can replace them. A reduction in the amount of red blood cells causes the signs and symptoms of hemolytic anemia.
- Glucose-6-phosphate dehydrogenase deficiency is located on the X chromosome and tends to affect men more often than women.
What is glucose-6-phosphate dehydrogenase deficiency?
Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs most often in males. This condition mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely. This destruction of red blood cells is called hemolysis.
The most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, and a rapid heart rate. In people with glucose-6-phosphate dehydrogenase deficiency, hemolytic anemia is most often triggered by bacterial or viral infections or by certain drugs (such as some antibiotics and medications used to treat malaria). Hemolytic anemia can also occur after eating fava beans or inhaling pollen from fava plants (a reaction called favism).
Glucose-6-dehydrogenase deficiency is also a significant cause of mild to severe jaundice in newborns. Many people with this disorder, however, never experience any signs or symptoms.
Medically Reviewed by a Doctor on 4/15/2014
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