1. Why is the detection of G6PD deficiency important?
The detection allows patients to work with their doctor and to educate themselves about a condition that will affect them to some degree for the rest of their lives. It also allows patients to talk to the doctor about how this trait is inherited and the potential impact it may have on their children. By knowing about the deficiency and avoiding potential triggering substances and situations, most of those who have G6PD deficiencies can lead relatively normal lives.
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2. Is it important to determine which mutation I have?
Not for you personally, but it may aid in detecting the mutation in other family members. Genetic testing usually only tests for the most common mutations. If you have one of the common mutations, then testing other family members for that mutation is useful in establishing familial patterns.
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3. Do I need to tell a new doctor that I have a G6PD deficiency if I do not have any symptoms?
Yes, this is an important part of your medical history and will affect future procedures and treatment options. Your doctor needs to know if you have a G6PD deficiency or if you know that you are an
asymptomatic carrier. As noted, a variety of drugs can exacerbate the hemolytic episode, requiring immediate attention including a blood transfusion.
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