01-02-2009, 11:25 AM
Glucose-6-Phosphate Dehydrogenase(G6PD) deficiency is the most common human enzyme deficiency; an estimated 400 million people worldwide are affected by this enzymopathy (Scriver etal., 1995). One benefit of having G6PD deficiency is that it confers a resistance to malaria. G6PD deficiency is also sometimes referred to as favism since some G6PD deficient individuals are also allergic to fava beans. Individuals with reduced G6PD activity are at risk for several pathologies which can be potentially serious (even causing death) if they are not properly treated. The severity of the pathologies associated with G6PD deficiency has prompted researchers to study this condition. Since the discovery of G6PD deficiency in 1956, thousands of research papers have been published on various aspects of this genetic condition. About 10 percent of American black males have G6PD deficiency, as do a lesser percent of black females. G6PD deficiency is also increased in frequency in people of Mediterranean origin (including Italians, Greeks, Arabs, and Jews). G6PD deficiency is also known as"favism,"since G6PD deficient individuals are also sometimes allergic to fava beans. G6PD deficiency is an allelic abnormality which is inherited in an X-linked recessive fashion. When someone has G6PD deficiency, complications can arise; hemolytic anemia and prolonged neonatal jaundice are the two major pathologies associated with G6PD deficiency. Both of these conditions are directly related to the inability of specific cell types to regenerate reduced nicotinamide adenine dinucleotide phosphate (NADPH); this reaction is normally catalyzed by the G6PD enzyme. A consequence of this is that G6PD deficient individuals are resistant to the malaria causing parasite.In G6PD deficient individuals, anemia is usually caused by certain oxidative drugs , infections, or fava beans. When any one of these agents, or their metabolites, enters a G6PD deficient red blood cell, hemoglobin becomes denatured, thus destroying its function as the principal oxygen carrying molecule. In addition to being susceptible to hemolytic anemia, G6PD deficient individuals are also predisposed to prolonged neonatal jaundice. This can be a potentially serious problem as it can cause severe neurological complications and even death. Several kinds of treatments can be utilized in treating the different clinical manifestations of G6PD deficiency. One treatment relies on preventative measures. Researchers are currently genetically engineering the fava bean so that the causative agents of the hemolysis will be eliminated; this will allow favic individuals to eat fava beans.Some environmental exposures are hazardous, before scuba diving, medical advice should be sought.Hope this helpsMatador 89
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