Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Genetic Disorder, Favism and Hemolytic Anemia Website
Glucose-6-Phosphate Dehydrogenase Deficiency, G6PD Deficiency or Favism, is a genetic disorder, not a disease, which can cause hemolytic anemia when people with the disorder come into contact with drugs, food and other substances which cause oxidative stress. It is in fact the most common genetic enzyme deficiency. This website is dedicated to information, research and education for people about G6PD Deficiency so those with this condition can live healthier, longer lives.
For those unfamiliar with G6PD Deficiency, the best place to start is with the G6PD Deficiency Overview page. The most important thing to learn is that certain drugs, foods and other substances cause those with G6PD Deficiency or Favism to lose red blood cells. For a list of these contraindicated substances, go to our Contraindicated Substances page.
What Causes G6PD Deficiency / Favism?
Simply put, it is an inherited disorder and cannot be contracted in any other way. See the
Inheritance page for more information.
How is it Diagnosed?
The diagnosis of G6PD deficiency is made by a quantitative spectrophotometric analysis or, more commonly, by a rapid fluorescent spot test detecting the generation of NADPH from NADP. The test is positive if the blood spot fails to fluoresce under ultraviolet light. In field research, where quick screening of a large number of patients is needed, other tests have been used, however, they require definitive testing to confirm an abnormal result. Tests based on polymerase chain reaction detect specific mutations and are used for population screening, family studies, or prenatal diagnosis.
Diagnostic problems.
In patients with acute hemolysis, testing for G6PD deficiency may be falsely negative because older erythrocytes with a higher enzyme deficiency have been hemolyzed. Young erythrocytes and reticulocytes have normal or near-normal enzyme activity. Female heterozygotes may be hard to diagnose because of X-chromosome mosaicism leading to a partial deficiency that will not be detected reliably with screening tests.
How common is G6PD Deficiency?
Aproximately 400 million people world wide are G6PD Deficient. It is most common among people of Mediterranean, African, Asian and Middle Eastern decent.
How many variants are there?
More than
400 different variants of G6PD Deficiency have been identified so far ranging from severe deficiency to mild. More than 80 of them are accompanied by Chronic Non-spherocytic Hemolytic Anemia.
What is Favism?
Favism has been known since antiquity. Everyone with Favism is G6PD Deficient but not all with G6PD Deficiency have Favism. The term comes from the Fava Bean and those with Favism hemolyze when they come into contact with the bean. See the
Favism Page for more information.
Can G6PD Deficiency be treated or cured?
No. There is no known cure nor do you grow out of it. It is a life long condition. The only thing you can do is
avoid substances which cause oxidative stress and that use G6PD. Carbohydrates require G6PD for the body to change them into energy for example.
Legumes (especially the Fava Bean) contain the proteins vicine, convicine and isouramil which cause hemolysis.
