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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Glucose-6-phosphate dehydrogenase deficiency


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


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What are the signs and symptoms of glucose-6-phosphate dehydrogenase (G6PD) deficiency?

Individuals with G6PD deficiency do not display signs of the disease unless their red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or to stress.[1][2] Many people with this condition never experience symptoms.[2] The most common medical problem associated with G6PD 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, enlarged spleen, and a rapid heart rate.[1][2]

Researchers believe that carriers of a mutation in the G6PD gene 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 more frequently in areas of the world where malaria is common.[2]
Last updated: 10/11/2011

References
  1. Dugdale DC, Mason JR. Glucose-6-phosphate dehydrogenase deficiency . MedlinePlus. March 2010; http://www.nlm.nih.gov/medlineplus/ency/article/000528.htm. Accessed 10/11/2011.
  2. 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.