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Genetics Home Reference: your guide to understanding genetic conditions
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Glucose-6-phosphate dehydrogenase deficiency

Reviewed May 2006

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-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.

How common is glucose-6-phosphate dehydrogenase deficiency?

An estimated 400 million people worldwide have glucose-6-phosphate dehydrogenase deficiency. This condition occurs most frequently in 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 G6PD gene provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase. This enzyme 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 byproducts 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, this 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 hemolytic anemia.

Researchers believe that carriers of a G6PD mutation may be partially protected against malaria, an infectious disease carried by a certain type of mosquito. A reduction in the amount of functional glucose-6-dehydrogenase appears to make it more difficult for this parasite to invade red blood cells. Glucose-6-phosphate dehydrogenase deficiency occurs most frequently in areas of the world where malaria is common.

Related Gene(s)

Changes in this gene are associated with glucose-6-phosphate dehydrogenase deficiency.

  • G6PD

How do people inherit glucose-6-phosphate dehydrogenase deficiency?

This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is 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 would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Where can I find information about diagnosis or management of glucose-6-phosphate dehydrogenase deficiency?

These resources address the diagnosis or management of glucose-6-phosphate dehydrogenase deficiency and may include treatment providers.

  • Baby's First Test (http://www.babysfirsttest.org/newborn-screening/conditions/glucose-6-phosphate-dehydrogenase-deficiency)
  • Genetic Testing Registry: Glucose 6 phosphate dehydrogenase deficiency (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0017758)
  • MedlinePlus Encyclopedia: Glucose-6-phosphate dehydrogenase deficiency (http://www.nlm.nih.gov/medlineplus/ency/article/000528.htm)
  • MedlinePlus Encyclopedia: Glucose-6-phosphate dehydrogenase test (http://www.nlm.nih.gov/medlineplus/ency/article/003671.htm)
  • MedlinePlus Encyclopedia: Hemolytic anemia (http://www.nlm.nih.gov/medlineplus/ency/article/000571.htm)
  • MedlinePlus Encyclopedia: Newborn jaundice (http://www.nlm.nih.gov/medlineplus/ency/article/001559.htm)

You might also find information on the diagnosis or management of glucose-6-phosphate dehydrogenase deficiency in Educational resources (http://www.ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about glucose-6-phosphate dehydrogenase deficiency?

You may find the following resources about glucose-6-phosphate dehydrogenase deficiency helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for glucose-6-phosphate dehydrogenase deficiency?

  • Deficiency of glucose-6-phosphate dehydrogenase
  • G6PDD
  • G6PD Deficiency
  • glucose 6 phosphate dehydrogenase deficiency

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about glucose-6-phosphate dehydrogenase deficiency?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding glucose-6-phosphate dehydrogenase deficiency?

anemia ; antibiotics ; cell ; chromosome ; deficiency ; dehydrogenase ; enzyme ; favism ; gene ; glucose ; hemolysis ; hemolytic anemia ; hyperbilirubinemia ; inheritance ; inherited ; jaundice ; malaria ; mutation ; neonatal ; newborn screening ; oxygen ; phosphate ; reactive oxygen species ; recessive ; screening ; sex chromosomes ; toxic ; X-linked recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Beutler E. G6PD deficiency. Blood. 1994 Dec 1;84(11):3613-36. Review. (http://www.ncbi.nlm.nih.gov/pubmed/7949118?dopt=Abstract)
  • Dhaliwal G, Cornett PA, Tierney LM Jr. Hemolytic anemia. Am Fam Physician. 2004 Jun 1;69(11):2599-606. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15202694?dopt=Abstract)
  • Frank JE. Diagnosis and management of G6PD deficiency. Am Fam Physician. 2005 Oct 1;72(7):1277-82. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16225031?dopt=Abstract)
  • Kaplan M, Hammerman C. Glucose-6-phosphate dehydrogenase deficiency: a potential source of severe neonatal hyperbilirubinaemia and kernicterus. Semin Neonatol. 2002 Apr;7(2):121-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12208096?dopt=Abstract)
  • Mehta A, Mason PJ, Vulliamy TJ. Glucose-6-phosphate dehydrogenase deficiency. Baillieres Best Pract Res Clin Haematol. 2000 Mar;13(1):21-38. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10916676?dopt=Abstract)
  • Ruwende C, Hill A. Glucose-6-phosphate dehydrogenase deficiency and malaria. J Mol Med (Berl). 1998 Jul;76(8):581-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/9694435?dopt=Abstract)
  • Verrelli BC, McDonald JH, Argyropoulos G, Destro-Bisol G, Froment A, Drousiotou A, Lefranc G, Helal AN, Loiselet J, Tishkoff SA. Evidence for balancing selection from nucleotide sequence analyses of human G6PD. Am J Hum Genet. 2002 Nov;71(5):1112-28. Epub 2002 Oct 11. (http://www.ncbi.nlm.nih.gov/pubmed/12378426?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2006
Published: September 15, 2014