What are the variants of glucose-6-phosphate dehydrogenase (G6PD) deficiency?

Updated: Jun 25, 2020
  • Author: Lawrence C Wolfe, MD; Chief Editor: George T Griffing, MD  more...
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Answer

G6PD A- occurs in high frequency in Africa, Southern Europe, and North and South America. It is associated with lower enzyme levels and acute intermittent hemolysis. [4, 16, 17, 18]

G6PD Mediterranean is seen mainly in the Middle East, including Israel, and it accounts for almost all G6PD deficiency in Kurdish Jews, India, and Indonesia. [4, 16, 19, 20, 21, 22, 23, 24, 25, 17, 18]  It is characterized by enzyme deficiency that is more severe than G6PD A- alleles. Hemolysis after ingestion of fava beans (Favism) is most frequently associated with the Mediterranean variant of G6PD deficiency.

G6PD Canton is seen mainly in China and G6PD Union is seen worldwide.

G6PD B is the wild type of allele (normal variant). The G6PD A+ variant is associated with high enzyme levels and, hence, no hemolysis.

In addition, severe forms of G6PD deficiency are associated with chronic nonspherocytic hemolytic anemia. Mutations causing severe chronic non-spherocytic hemolytic anemia commonly cluster in Exon 10, a region important for protein dimerization. [16, 26]


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