If you have been diagnosed with G6PD deficiency, it is helpful to share your genetic test results with your family. G6PD deficiency is caused by mutations in the G6PD gene, which causes it to work differently than it should.
G6PD deficiency is inherited in what is called an X-linked recessive manner. The G6PD gene is located on the X chromosome. Women have two X chromosomes, while men have an X and a Y chromosome. This means that women have two copies of G6PD, while men only have one copy of G6PD. A man needs only one G6PD gene mutation to have symptoms of G6PD deficiency. A woman needs two G6PD gene mutations to have symptoms of G6PD deficiency. Since this happens very rarely, women rarely have symptoms of G6PD deficiency.
However, a woman can have genetic testing because she can be a carrier of a G6PD gene mutation. She has a 50% random chance of passing down that mutation to her children, regardless of the child’s gender. If a boy inherits the mutation, he will develop G6PD deficiency. If a girl inherits the mutation, she will be a carrier, like her mother. A man who has G6PD deficiency cannot pass down the gene mutation to his sons, but he will pass it down to all of his daughters. If the daughter inherits a mutation from her father and a mutation from her mother, she will also develop symptoms of G6PD deficiency.
Sharing genetic testing results with family members can help others get genetic testing themselves, if they wish to have it. An early diagnosis of G6PD deficiency means that necessary medical precautions can be taken, to avoid complications from anemia or other symptoms.
If you would like to learn more about genetic testing for G6PD deficiency, speak to your doctor about a referral to see a geneticist or a genetic counselor. In North America, you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.
Other Questions About Glucose-6-phosphate dehydrogenase (G6PD) deficiency
- Why does G6PD deficiency cause anemia?
- Who else in my family should have testing for G6PD deficiency?
- What type of sample should be taken for G6PD deficiency genetic testing?
- What treatment can help the symptoms of G6PD deficiency from getting worse?
- What is the usual abbreviation for G6PD deficiency?
