G6PD rs1050828: Understanding the A- Variant and Enzyme Function
The rs1050828 variant in the G6PD gene is a common genetic change associated with G6PD deficiency, specifically the A- phenotype. This variant is frequently observed in populations of African ancestry and can influence how the body processes certain medications and clinical laboratory results.
What each genotype means
Normal enzyme activity
This genotype represents the typical, fully functional version of the G6PD gene. Individuals with this profile generally maintain normal G6PD enzyme activity levels and are not at an increased risk for G6PD deficiency-related hemolytic anemia associated with this specific variant.
This is the most common genotype globally, though it is less frequent in populations where the A allele is prevalent due to evolutionary selection.
Reduced enzyme activity
This genotype indicates you carry one copy of the variant associated with G6PD deficiency, often referred to as the A- haplotype when combined with other genetic markers. Because the G6PD gene is located on the X chromosome, females with this genotype may have a mosaic of red blood cells with varying levels of enzyme activity, while males are typically hemizygous and will express the deficiency. You should discuss potential risks of drug-induced hemolysis or sensitivity to certain foods with your clinician or pharmacist.
This genotype is frequently observed in populations of African ancestry, where the A allele is common.
G6PD deficient
This genotype is associated with a reduction in G6PD enzyme activity, which can make red blood cells more susceptible to damage under oxidative stress. Individuals with this profile may be at risk for acute hemolytic anemia if exposed to certain medications, fava beans, or infections. Please consult with your healthcare provider or pharmacist regarding medication safety and potential triggers for hemolytic events.
This genotype is found in approximately 10-15% of individuals of African ancestry, reflecting the historical evolutionary selection for this variant.
What is rs1050828?
The rs1050828 variant is a single nucleotide polymorphism (SNP) located within the G6PD gene on the X chromosome. In scientific literature, this variant is often referred to as the G202A mutation, representing a change from a guanine (G) to an adenine (A) nucleotide at position 202 of the gene's coding sequence. This specific change results in a missense mutation, where the amino acid valine is replaced by methionine at position 68 of the G6PD protein. Because the G6PD gene is located on the X chromosome, males—who have only one X chromosome—will either carry the G allele or the A allele. Females, having two X chromosomes, may carry two copies of the G allele, two copies of the A allele, or one of each. This variant is a key component of the A- haplotype, which is widely recognized for its association with reduced enzyme activity.
The Role of the G6PD Gene
The G6PD gene provides instructions for making the enzyme glucose-6-phosphate dehydrogenase. This enzyme plays a critical role in protecting red blood cells from oxidative stress by producing a molecule called NADPH. NADPH helps maintain levels of glutathione, an antioxidant that prevents damage to red blood cells. When G6PD activity is significantly reduced, red blood cells become vulnerable to destruction when exposed to certain triggers, such as specific medications, infections, or fava beans. This condition is known as G6PD deficiency. The rs1050828 variant is classified as a Class III deficiency, meaning it results in moderate enzyme deficiency. While many individuals with this variant live healthy lives, they may experience hemolytic anemia under specific environmental or chemical stressors. Understanding this genetic background is important for clinical management, particularly regarding drug safety.
Research and Clinical Associations
Research has extensively linked rs1050828 to G6PD deficiency, particularly when it occurs alongside another variant, rs1050829. Together, these form the A- haplotype. Studies have shown that this variant is associated with a higher risk of hemolysis when individuals are exposed to certain oxidizing drugs, such as primaquine or certain sulfonamides. Additionally, the variant has been identified in genome-wide association studies as a factor that can lower HbA1c levels, a common marker used to monitor long-term blood glucose control in diabetes. If this genetic influence is not accounted for, it can lead to inaccurate interpretations of diabetes screening tests in affected populations. Because of these associations, clinicians may consider G6PD status when prescribing specific medications or interpreting blood test results. Always discuss any concerns regarding medication safety or lab results with your healthcare provider or pharmacist.
Population Frequency
The rs1050828 variant is most common in populations of African descent, where it has reached higher frequencies due to evolutionary pressures, likely related to protection against severe malaria. In many sub-Saharan African countries, the frequency of the A allele can range from approximately 10% to 25% depending on the specific region. In the United States, it is estimated that roughly 10-15% of individuals of African ancestry carry this variant. It is significantly less common in other global populations, such as those of European or East Asian descent, where it is considered rare. This distribution highlights the importance of considering ancestry when evaluating the clinical relevance of genetic variants, as the prevalence of G6PD deficiency varies significantly across different parts of the world.
What You Can Do With This Information
Knowing your status for rs1050828 can be a useful tool for personal health management, but it should not be used for self-diagnosis. If you are aware that you or a family member carries this variant, the most important step is to inform your healthcare team. This information is particularly relevant when discussing new prescriptions, as some medications require dosage adjustments or should be avoided entirely in individuals with G6PD deficiency. Furthermore, if you are undergoing routine blood work, such as an HbA1c test, mentioning your G6PD status can help your doctor interpret your results accurately. Genetic information is only one piece of the puzzle; clinical decisions should always be based on a comprehensive evaluation by a medical professional. Avoid making changes to your medication regimen without direct guidance from your clinician or pharmacist.
How common is this variant?
The rs1050828 variant is common in African populations, with frequencies typically ranging from 10% to 15% in African American communities.
Frequently asked questions
Is rs1050828 the same as G6PD deficiency?
The rs1050828 variant is one of the genetic changes that can cause G6PD deficiency, specifically the A- type. However, G6PD deficiency can be caused by many different variants in the G6PD gene, so rs1050828 is not the only cause.
Does having the rs1050828 variant mean I have a disease?
No, having this variant does not mean you have a disease. It indicates a genetic predisposition to reduced G6PD enzyme activity, which may make you more sensitive to certain triggers that can cause red blood cell breakdown.
Should I avoid certain foods if I have this variant?
Some individuals with G6PD deficiency are advised to avoid fava beans, as they can trigger hemolysis. You should consult with a doctor or a registered dietitian to determine if dietary restrictions are necessary for your specific health profile.
How do I know if I have this variant?
This variant can be identified through genetic testing or by measuring G6PD enzyme activity in the blood. If you are concerned about your status, speak with your primary care physician about whether testing is appropriate for you.
Can this variant affect my diabetes test results?
Yes, the rs1050828 variant is known to influence HbA1c levels, which are used to diagnose and monitor diabetes. If you have this variant, your doctor may need to use alternative methods to assess your blood sugar control.
Sources & further reading
Educational information only, last refreshed 10/2/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs1050828?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in G6PD
Known as the G6PD A+ variant (p.Asn126Asp), this polymorphism is common in African populations. While it does not cause G6PD deficiency on its own, it is a component of the G6PD A- haplotype, which is associated with reduced enzyme stability and clinical deficiency.
Coding variant associated with G6PD deficiency and susceptibility to acute hemolytic anemia upon oxidative stress or exposure to hemolytic drugs.
Causes G6PD deficiency and favism risk in Mediterranean populations.
This variant is associated with G6PD deficiency, which can lead to hemolytic anemia upon exposure to certain medications or fava beans.
This variant is a known genetic contributor to G6PD deficiency, impacting drug metabolism and sensitivity to oxidative stress.
This variant is associated with G6PD deficiency, which can lead to hemolytic anemia when exposed to certain medications or stressors.