What are the symptoms?
Symptoms do not appear until triggered by stressors. Jaundice can manifest at birth, and is a lifelong risk. Symptoms include dark urine, paleness, difficulty breathing, a weak, rapid pulse, fatigue and yellowing of the skin and eyes. The most severe episodes are called hemolytic events, an extreme result of which can be kidney failure. However, most individuals with G6PD deficiency never know they have the condition.
How is G6PD diagnosed?
A physician knowledgeable of the symptoms can order a simple blood test to check G6PD enzyme activity in the blood.
Is there treatment available?
While the cause of the disorder cannot be treated, the symptoms are treatable through management of medicines and diet, and, if necessary, blood transfusions.
What is the life expectancy?
Lifespan is normal in individuals with the disorder, especially with management.
How do I find out if I am a carrier?
Carrier testing is only available to individuals with a family history of the disease. Genetic testing by full gene sequencing can detect about 99% of disease causing mutations. Other labs offer testing specifically for mutations found in the African population The Center encourages prospective parents to meet with a genetic counselor and get tested before conception, in order to make the best health care decisions for their family.
Is prenatal diagnosis available?
Testing is available to those with a previously affected child or to couples found to be at risk as carriers. This can only be performed if the familial mutation is known.