1. Why is the detection of G6PD deficiency important?
The detection allows people 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 people 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.
2. Are there ways to test for G6PD deficiency other than enzyme testing?
Yes, genetic G6PD testing may sometimes be done within a family to help identify the relevant mutation in women who are carriers (such as the mother of an affected son or daughter of an affected father) when one or more male family members have a G6PD deficiency. If a G6PD genetic mutation is detected, the person will likely have some degree of G6PD deficiency. An individual person may experience symptoms that range from nonexistent to acute and severe to chronic at various times throughout their life. An affected man will pass the mutation on to his daughter, who will be a carrier. A heterozygous/carrier woman has a 50% chance of passing it on to each of her children. A homozygous woman with two altered X chromosomes will pass one of her mutations to all of her children. The mutation(s) will be the same within the family and may be common in a geographic region. [For more information on genetic testing, see The Universe of Genetic Testing].
3. 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 a specific mutation, then testing other family members for that mutation is useful in establishing familial patterns.
4. 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 asymptomaticcarrier. As noted, a variety of drugs can worsen the hemolytic episode, requiring immediate attention including a blood transfusion.
This article was last reviewed on July 28, 2012. | This article was last modified on July 28, 2012.
The review date indicates when the article was last reviewed from beginning to end to ensure that it reflects the most current science. A review may not require any modifications to the article, so the two dates may not always agree.
The modified date indicates that one or more changes were made to the article. Such changes may or may not result from a full review of the article, so the two dates may not always agree.