An Introduction to G6PD Deficiency

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TARGET AUDIENCE:

general audience with some background knowledge in biology.

PURPOSE:

he purpose of this page is to utilize the world-wide accessibility and convenience of the internet to introduce the genetic, physiological, molecular, and clinical aspects of G6PD deficiency. This site is meant as an introduction to this condition and is not meant to replace, but rather, supplement the health care provider (i.e. doctor) as a source of health care information; please read the DISCLAIMER .

INTRODUCTION:

lucose-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 (Carson et al., 1956; Beutler, 1994). It is therefore important to learn about G6PD deficiency; more specifically, this WEB site will introduce the genetic, physiological, molecular, and clinical aspects of this condition.

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RESEARCH:

G6PD Research Study at Penn State College of Medicine

This 50-question online survey for individuals with G6PD Deficiency & Favism was conducted for Pennsylvania State College of Medicine from May 8, 2007 to September 1, 2007. Results will be published also on this site in early 2008.
To all who have participated — many thanks!



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