Glucose-6-Phosphate Dehydrogenase Deficiency
What is glucose-6-phosphate dehydrogenase deficiency?
Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that mainly affects red blood cells. These cells 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 haemolysis.
Glucose-6-phosphate dehydrogenase deficiency mainly affects males. Some affected infants have severe yellowing of the skin and whites of the eyes (jaundice); this condition is a significant cause of jaundice in newborns. The most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency is haemolytic anaemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anaemia leads to paleness, jaundice, dark urine, fatigue, shortness of breath, and a rapid heart rate. Many people with this disorder, however, never experience any signs or symptoms.
In people with glucose-6-phosphate dehydrogenase deficiency, haemolytic anaemia is most often triggered by bacterial or viral infections (particularly hepatitis, pneumonia, and typhoid fever) or certain drugs (such as some antibiotics and medications used to treat malaria). haemolytic anaemia can also occur after eating fava beans or inhaling pollen from fava plants (a reaction called favism).
How common is glucose-6-phosphate dehydrogenase deficiency?
Glucose-6-phosphate dehydrogenase deficiency affects an estimated 400 million people worldwide. This condition protects affected individuals against malaria, an infectious disease carried by mosquitoes. Glucose-6-phosphate dehydrogenase deficiency occurs most frequently in areas of the world where malaria is common, including certain parts of Africa, Asia, and the Mediterranean. It affects about 1 in 10 African-American males in the United States.
What genes are related to glucose-6-phosphate dehydrogenase deficiency?
Mutations in the G6PD gene cause glucose-6-phosphate dehydrogenase deficiency.
The enzyme produced by the G6PD gene, glucose-6-phosphate dehydrogenase, is involved in the normal processing of carbohydrates. It also protects red blood cells from the effects of potentially harmful molecules called reactive oxygen species. Reactive oxygen species are by-products of normal cellular functions. Chemical reactions involving glucose-6-phosphate dehydrogenase produce compounds that prevent reactive oxygen species from building up to toxic levels within red blood cells.
If mutations in the G6PD gene reduce the amount of glucose-6-phosphate dehydrogenase or alter its structure, the enzyme can no longer play its protective role. As a result, reactive oxygen species can accumulate and damage red blood cells. 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 haemolytic anaemia.
How do people inherit glucose-6-phosphate dehydrogenase deficiency?
This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
What other names do people use for glucose-6-phosphate dehydrogenase deficiency?
- Deficiency of glucose-6-phosphate dehydrogenase
- G6PDD
- G6PD Deficiency
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