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Diseases

Genetic and Rare Diseases Information Center (GARD)

Glucose-6-phosphate dehydrogenase deficiency


Other Names for this Disease
  • G6PD deficiency
  • Hemolytic anemia due to G6PD deficiency
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Cause

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What causes glucose-6-phosphate dehydrogenase (G6PD) deficiency? 

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by mutations in the G6PD gene. This gene gives the body instructions to make an enzyme called G6PD, which is involved in processing carbohydrates. This enzyme also protects red blood cells from potentially harmful molecules called reactive oxygen species. Chemical reactions involving G6PD produce compounds that prevent reactive oxygen species from building up to toxic levels within red blood cells.[1]

Mutations in the G6PD gene lower the amount of G6PD or alter its structure, lessening its ability to play its protective role. As a result, reactive oxygen species can accumulate and damage red blood cells. Factors such as infections, certain drugs, or eating fava beans can increase the levels of reactive oxygen species, causing red blood cells to be destroyed faster than the body can replace them. This reduction of red blood cells causes the signs and symptoms of hemolytic anemia in people with G6PD deficiency.[1]
Last updated: 7/23/2015

References
  1. Glucose-6-phosphate dehydrogenase deficiency. Genetics Home Reference (GHR). May 2006; http://www.ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency. Accessed 10/11/2011.


Other Names for this Disease
  • G6PD deficiency
  • Hemolytic anemia due to G6PD deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.