Stephen J. Schueler, M.D.

Overview Incidence Symptoms Outlook Genetics

G6PD Deficiency Overview

Another name for G6PD Deficiency is Glucose-6-Phosphate Dehydrogenase Deficiency.

What is glucose-6-phosphate dehydrogenase deficiency?
Glucose-6-phosphate dehydrogenase deficiency or G6PD is an inherited condition, in which the body does not produce enough of the enzyme, glucose-6-phosphate dehydrogenase (G6PD). The abnormal gene that is responsible for G6PD is located on the X chromosome. Glucose-6-phosphate dehydrogenase is an enzyme that helps red blood cells function normally. Exposure to certain chemicals and medications in someone with G6PD deficiency can lead to hemolytic anemia.

What are the symptoms of glucose-6-phosphate dehydrogenase deficiency?
Most people with glucose-6-phosphate dehydrogenase deficiency do not have symptoms until the red blood cell count has decreased, due to the hemolytic anemia. Symptoms of G6PD deficiency include faintness, fatigue, palpitations, shortness of breath, pale skin, jaundice, and brown urine.

How does the doctor treat glucose-6-phosphate dehydrogenase deficiency?
Treatment of glucose-6-phosphate dehydrogenase deficiency includes the avoidance of the drug that may have triggered the event. A blood transfusion may be required in some severe cases.

Continue to G6PD Deficiency Incidence

Last Updated: Aug 27, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed G6PD Deficiency References
  1. Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008 Jan 5;371(9606):64-74. [18177777]
  2. Mason PJ, Bautista JM, Gilsanz F. G6PD deficiency: the genotype-phenotype association. Blood Rev. 2007 Sep;21(5):267-83. Epub 2007 Jul 3. [17611006]
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