What causes G6PD deficiency?

G6PD deficiency is caused by mutations in the G6PD gene located on the X chromosome. These genetic mutations result in the body producing insufficient amounts of the glucose-6-phosphate dehydrogenase enzyme, which normally protects red blood cells from damage caused by oxidative stress. Because the gene is on the X chromosome, men are more commonly affected than women, and the condition is inherited from parents who carry the mutated gene.

What is the best test for G6PD deficiency?

The Glucose-6-Phosphate Dehydrogenase Quantitative test is the most important test for G6PD deficiency because it directly measures the amount of enzyme activity in your red blood cells. This quantitative blood test can definitively confirm the diagnosis by detecting abnormally low or absent G6PD enzyme levels. The test is especially valuable because it provides a specific measurement of enzyme activity, allowing doctors to determine the severity of the deficiency and help you identify triggers that could cause hemolytic anemia episodes.

When should I get tested for G6PD deficiency?

You should get tested if you have experienced unexplained episodes of anemia, jaundice, or dark urine after taking certain medications, eating fava beans, or during an infection. Testing is also important if you have a family history of G6PD deficiency, are of Mediterranean, African, Middle Eastern, or Southeast Asian descent, or before starting medications known to trigger hemolytic episodes. Early diagnosis helps you avoid dangerous triggers and prevent potentially life-threatening complications.

What are the symptoms of G6PD deficiency?

Symptoms of G6PD deficiency typically appear during hemolytic episodes and include sudden fatigue, pale or yellowish skin (jaundice), dark-colored urine, rapid heart rate, and shortness of breath. You might also experience back pain, fever, and dizziness during an episode. Many people with G6PD deficiency have no symptoms until they are exposed to triggers like certain medications, infections, or fava beans, which cause red blood cells to break down rapidly.

Who is at risk for G6PD deficiency?

Men are at higher risk for G6PD deficiency because the condition is X-linked, meaning the genetic mutation is on the X chromosome. People of Mediterranean, African, Middle Eastern, and Southeast Asian descent have higher rates of this genetic condition. If you have family members with G6PD deficiency, your risk increases significantly. Newborn babies are also screened in many countries because the condition can cause severe jaundice in infants.

What happens if G6PD deficiency is left untreated?

Untreated G6PD deficiency can lead to severe hemolytic anemia episodes that may become life-threatening if you are exposed to triggers without knowing you have the condition. These episodes can cause acute kidney failure, severe anemia requiring blood transfusions, and in rare cases, death. Without diagnosis, you might unknowingly take medications or consume foods that trigger red blood cell destruction, leading to repeated health crises. Early diagnosis through testing allows you to avoid triggers and live a normal, healthy life.

Can G6PD deficiency be diagnosed with a blood test?

Yes, G6PD deficiency can be definitively diagnosed with a blood test that measures the level of G6PD enzyme activity in your red blood cells. The test is simple and requires only a small blood sample. Results show whether your enzyme levels are normal, reduced, or severely deficient. For the most accurate results, testing should be done when you are not experiencing an active hemolytic episode, as newly produced red blood cells during recovery may temporarily show higher enzyme levels.

How is G6PD deficiency treated?

G6PD deficiency is treated primarily through avoidance of triggers that cause hemolytic episodes, including certain medications like antimalarials and sulfa drugs, fava beans, and infections. During acute hemolytic episodes, treatment may include hydration, rest, and in severe cases, blood transfusions to replace damaged red blood cells. There is no cure for the genetic condition itself, but with proper management and trigger avoidance, most people with G6PD deficiency live completely normal lives without complications.

How can I prevent G6PD deficiency complications?

You can prevent G6PD deficiency complications by knowing your diagnosis and strictly avoiding known triggers. Keep a list of medications to avoid and share your G6PD status with all healthcare providers before taking any new medications. Avoid eating fava beans and products containing them. Seek prompt treatment for infections to minimize oxidative stress on red blood cells. Wearing a medical alert bracelet or carrying a card with your diagnosis can be lifesaving in emergency situations.

What can I do at home for G6PD deficiency?

At home, you can manage G6PD deficiency by maintaining a list of safe and unsafe medications, foods, and household products that contain naphthalene (like mothballs). Eat a balanced diet rich in antioxidants to support red blood cell health, stay well-hydrated, and get adequate rest. Monitor yourself for early signs of hemolytic episodes like fatigue or dark urine, and seek medical attention immediately if symptoms appear. Educate family members about your condition so they can help you avoid triggers and recognize warning signs.

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G6PD Deficiency Blood Test | Private MD Labs

G6PD Deficiency Blood Test

What is Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Deficiency)?

Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a genetic disorder that affects the ability of red blood cells to function properly. It is caused by mutations in the G6PD gene that result in reduced or absent production of the G6PD enzyme, which protects red blood cells from oxidative damage. The Glucose-6-Phosphate Dehydrogenase Quantitative test is the most important test for diagnosis because it directly measures enzyme activity levels in red blood cells.

Written by Private MD Labs Medical Team

Last updated: December 30, 2025

Getting your blood test with us is easy, private & backed by the power of science.

Long story short:

In the test options, use the filters or search box to narrow your choices and find the test you want.
If you need a hand navigating through options, text our super friendly support team at 754-799-7833, and we'll provide tailored suggestions to help you find the ideal test.
Once your order is placed, we’ll create your doctor’s lab order remotely, without any need for you to make a trip to a doctor in person or to talk to the doctor. Expect to receive your doctor’s lab order right in your inbox. It will also be in your patient portal if you need to find it later. We’ll also include instructions regarding fasting and other requirements for your test. Your patient portal will be auto-created hassle-free during checkout.
If this is your first time ordering, you'll be prompted to create a password for instant login access to your patient portal. It's a quick way to conveniently access your orders and results whenever you want.
When you’re ready, visit one of our 4,000 locations. Just bring your ID – no printing or faxing of your lab order is needed, as your order and details will already be in the lab system.
Note that most lab locations don’t accept walk-ins, so it’s best to book an appointment in advance. Don’t worry – we’ll provide detailed instructions along the way.
You’ll get your results via email & SMS and dive into understanding your body better. Yup, that easy!

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