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G6PD

Also known as: G-6-PD
Formal name: Glucose-6-Phosphate Dehydrogenase
Related tests: CBC, Blood Smear
Common Questions
  1. Why is the detection of G6PD deficiency important?
2. Is it important to determine which mutation I have?
3. Do I need to tell a new doctor that I have a G6PD deficiency if I do not have any symptoms?


1. Why is the detection of G6PD deficiency important? The detection allows the patient to work with his doctor and to educate himself about a condition that will affect him to some degree for the rest of his life. It also allows the patient to talk to his doctor about how the trait is inherited and the potential impact it may have on his 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. 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 it is known that a particular mutation runs in your family, that mutation can be tested for.



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 procedure and treatment options. Your doctor needs to know if you have a G6PD deficiency or if you know that you are an asymptomatic carrier.






This article was last reviewed on June 27, 2005.
 
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