Epidemiology

G6PD deficiency is caused by mutations in the X-linked G6PD gene. It is one of the most common enzyme deficiency states in the world, and one of the most frequent inherited disorders.[2][3][4][5] More than 400 million people are affected worldwide. The highest prevalence is in people of African, Mediterranean, and Asian heritage. The prevalence in Kurdish Jews is 50%-70%.[6] In the US, the prevalence is approximately 10% among black males.[6][7] As with all sex-linked conditions, the prevalence among females is higher but they are generally asymptomatic. In common with the carrier state of many other inherited red cell disorders (e.g., hemoglobinopathies), the deficiency of G6PD confers a degree of protection against malaria. The protection extends predominantly to hemizygous-deficient males and homozygous-deficient females, but has also been reported to extend to heterozygous-deficient females.[8][9]

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