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Cytogenetic, Clinical, Biochemicaland Pharmacological Aspects of Glucose 6 Phosphate Dehydrogenase-An updated Review

19 - March - 2019

Glucose 6 Phosphate Dehydrogenase (G6PD) is one of the rate-limiting enzymes in hexose monophosphate pathway. G6PD deficiency is an X-linked inheritable abnormality in humans and mostly males are affected, while females are carriers only. The cytogenetic location for all mutations that cause G6PD deficiency is on the band Xq28 of the long arm of the X chromosome, and the locus of the G6PD gene is at Xq27.3 chromosomes. Mutations in the G6PD gene may reduce the amount of G6PD or alter its structure. Most individuals with G6PD deficiency have a qualitative abnormality in the structure of the G6PD enzyme. The deficiency is more commonly found in persons of African, Mediterranean, South Asian, and Middle-Eastern countries. G6PD deficiency is seen to occur most frequently in the areas where malaria is common. G6PD deficiency can cause a spectrum of symptoms that include hemolytic anemia caused by ingestion or exposure to certain triggers. Anemia in turn causes jaundice, pale skin or finger nails, lethargy, fatigue, shortness of breath and fever, among others. The diagnosis of heterozygous deficient women is especially complicated because these women have a normal and a G6PD-deficient population of erythrocytes as a result of lyonization. In this context, knowledge of G6PD enzyme and its deficiency is very essential for clinicians and researchers. Hence an attempt has been made in this article to summarize the cytogenetic, clinical, biochemical and pharmacological aspects of G6PD enzyme.

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