Genetic Implications of G-6-PD Deficiency

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Abstract
GLUCOSE-6-phosphate dehydrogenase (G-6-PD) deficiency varies greatly in its prevalence throughout the world, in its severity between the sexes and in the actual defect among those with the disorder. Over 100 variants of the enzyme have been described, of which some are unassociated with any clinical disorder and others are accompanied by chronic hemolytic anemia.1 These enzymes are characterized according to such kinetic properties as pH optimum, inhibition by NADPH, affinity for normal and abnormal substrates, and heat stability. In some, actual amino acid substitutions have been demonstrated.2 , 3 Some of the variant enzymes are associated with no or minimal hemolysis unless . . .