Genetic Variants that Cause G6PD Deficiency

G6PD DeficiencyWhat is the G6PD gene?
The G6PD gene codes for the glucose-6-phosphate dehydrogenase enzyme.  This gene is located on the X chromosome, so males will only have one copy of it and are more likely to be affected by it than females. The G6PD enzyme is part of the pentose phosphate pathway and supplies the energy needed to produce NADPH. NADPH then is responsible for maintaining the supply of glutathione, an antioxidant.  Red blood cells are the only type of cells that rely entirely on this pathway and thus G6PD deficiency can cause the destruction of red blood cells through a build up of oxidants.

G6PD deficiency is an inborn error of metabolism and is also known as Favism due to the negative effect of fava (or broad) beans.  There are several medications that also cause problems for those with G6PD deficiency including quinones, methylene blue, and certain antibiotics.

 

Genetic variants that cause G6PD deficiency:
Most of these are listed on SNPedia.com with information coming from ClinVar.  This is in no way a complete list – just some of the variants covered by 23andMe.

G6PD variant Risk Allele
rs5030868 A
rs72554664 T
rs1050828 T
rs1050829 C
i3003411 T
i5008421 T
i5008428 C
i5008429 T
i5008433 T
i5008436 T
i5008440 A
i5008443 C
i5008445 A
i5008448 T
i5008456 G
i5008459 A
i5008462 C
i5012739 A
i6010512 T
i6010520 A
i6010578 T
i6010585 T
i6010588 T
i6010592 G
i6010627 T
i6010641 A
i6010663 T

Diet and Supplements that may help:

This is one disorder that you really should talk with your doctor about and possibly consult a dietician.  In addition to Fava beans and other legumes, there are quite a few foods that should be avoided.  As far as drugs to be avoided, again, talk with your doctor or pharmacist.

One study (and several anecdotes) suggest that N-acetylcysteine may be a good supplement for G6PD deficiency.  Again, do some more research and talk with a doc on this.

More to read:

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