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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Glucose-6-phosphate dehydrogenase deficiency


Other Names for this Disease
  • G6PD deficiency
  • Hemolytic anemia due to G6PD deficiency
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Your Question

Can women have symptoms of glucose 6 phosphate dehydrogenase (G6PD) deficiency?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How is glucose-6-phosphate dehydrogenase (G6PD) deficiency inherited?

G6PD deficiency is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.[1]
Last updated: 10/11/2011

Can women have symptoms of glucose-6-phosphate dehydrogenase (G6PD) deficiency?

Females can have G6PD deficiency if they have mutations in the associated gene on both of their X chromosomes. It is not common for women to have G6PD deficiency except in populations where the overall frequency of this condition is quite high.[2]

Some women who are carriers of this condition (and therefore have a mutation on only one X chromosome) develop symptoms of G6PD deficiency, particularly hemolytic anemia.[2]
Last updated: 10/11/2011

References