Glucose-6-phosphate deficiency is a genetic disease caused by low levels of the G6PD enzyme. It mainly affects red blood cells (the cells that carry oxygen from the lungs to tissues of the body), predisposing these cells to break down prematurely.
The G6PD enzyme plays several important roles in the body, one of which is protecting red blood cells from damage caused by reactive oxygen species (ROS). ROS are natural byproducts of energy metabolism.
In the presence of the G6PD enzyme, they are safely disposed, thus minimizing the risk of ROS buildup. However, when G6PD enzyme levels are low, ROS accumulate in red blood cells resulting in cell damage and premature destruction (hemolysis).
Take this test to find out if you are at risk. Early identification is key to appropriately managing the symptoms of the disease.
G6PD deficiency is caused by genetic variation in the G6PD gene. More than 400 genetic variants have been identified, all of which either reduce enzyme levels or alter the structure of the enzyme leaving the red blood cells unprotected from oxidative damage.
This test detects one genetic variant, rs1050828, which is the most common genetic cause of G6PD deficiency in people of African descent.
The G6PD gene is located on the X-chromosome, one of the two sex chromosomes.
- Males have only X chromosome, so they only have one copy of the G6PD gene: hence they are much more frequently affected
- Females must inherit two defective G6PD genes to be affected
- Heterozygous carriers (females who carry one copy of the defective variant) can pass the defective variant to their children and there is a 50% chance that a son of a carrier will develop the disease
Understanding your genetic risk for G6PD deficiency can encourage early monitoring, as avoiding triggers is key to managing symptoms associated with anemia.
- Rapid heart rate
- Shortness of breath
- Urine that is dark or yellow-orange
- Jaundice (yellowing of the skin and whites of the eyes)
How It Works
Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.