G6PD+Deficiency

=G6PD Deficiency=

What it is
Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs most often in males as it is an X-linked recessive disorder. 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 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.
 * Enzyme**

In the United States, G6PD deficiency is more common among blacks than whites. Men are more likely to have this disorder than women. You are more likely to develop this condition if you are: - African American - of Middle Eastern decent, particularly Kurdish or Sephardic Jewish - male - have a family history of the deficiency
 * Risk Factors**

Symptoms
The most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency is haemolytic anaemia, 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, haemolytic anemia is most often triggered by bacterial or viral infections or by certain drugs (such as some antibiotics and medications used to treat malaria). Haemolytic 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 to Treat
Treatment may involve: - Medicines to treat an infection, if present - Stopping any drugs that are causing red blood cell destruction - Transfusions, in some cases

Other advice
Patients with the condition should avoid the following foods and medications: Some children with G6PD must not take Asprin. Check with your specialist or paediatrician first. Always check the labels of any medications you buy without a prescription. Be careful about using herbal, naturopathic or other alternative / complementary therapies.
 * **Antibiotics**
 * Sulphonamides (check with your doctor)
 * Co-trimoxazole (Bactrim, Septrin)
 * Dapsone
 * Chloramphenicol
 * Nitrofurantoin
 * Nalidixic acid
 * **Antimalarials**
 * Chloroquine
 * Hydroxychloroquine
 * Primaquine
 * Quinine
 * Mepacrine
 * **Chemicals**
 * Moth Balls (napthalene)
 * Methylene blue
 * **Foods**
 * Fava beans - also called broad beans
 * **Other drugs**
 * Sulphasalazine
 * Methyldopa
 * Large doses of vitamin C
 * Hydralazine
 * Procainamide
 * Quinidine
 * Some anti-cancer drugs

Vitamin K is associated with risk of inducing a haemolytic response, with phytomenadione (vitamin K1) has low risk whereas menadione (vitamin K3) and menadiol (vitamin K4) are high risk.

Additional Resources
[|RCHM - G6PD Deficiency] [|Genetics Home Reference - G6PD Deficiency] [|MedlinePlus - Glucose-6-phosphate dehydrogenase deficiency]