Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Deficiency)
What is Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Deficiency)?
G6PD deficiency is a genetic condition that affects an enzyme in your red blood cells. The enzyme glucose-6-phosphate dehydrogenase helps protect red blood cells from damage. When you don't have enough of this enzyme, your red blood cells can break down too early.
This breakdown is called hemolytic anemia. It usually happens when something triggers it, like certain medications, infections, or eating fava beans. Most people with G6PD deficiency feel fine between episodes. The condition affects about 400 million people worldwide, making it one of the most common enzyme deficiencies.
G6PD deficiency is inherited through the X chromosome. Men are more likely to have symptoms because they have only one X chromosome. Women can carry the gene and sometimes have mild symptoms. The condition is most common in people of African, Mediterranean, Middle Eastern, and Southeast Asian descent.
Symptoms
- Pale or yellowish skin, a sign of jaundice
- Dark-colored urine, especially during an episode
- Extreme tiredness or weakness
- Rapid heartbeat or shortness of breath
- Back pain or abdominal pain during episodes
- Fever that may accompany an episode
- Enlarged spleen in some cases
Many people with G6PD deficiency have no symptoms until they encounter a trigger. Between episodes, most people feel completely normal. Newborns with G6PD deficiency may develop jaundice in the first few days of life.
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Causes and risk factors
G6PD deficiency is caused by mutations in the G6PD gene passed down through families. The gene is located on the X chromosome, which means the inheritance pattern is different for men and women. Men need only one copy of the altered gene to have the condition. Women need two copies or may be carriers with mild symptoms.
The condition itself is always present from birth, but episodes of hemolytic anemia are triggered by specific factors. Common triggers include certain antibiotics, antimalarial drugs, and pain medications. Infections like pneumonia or urinary tract infections can also trigger episodes. Eating fava beans is a well-known trigger, which is why the condition is sometimes called favism. Other triggers include stress from serious illness or surgery.
How it's diagnosed
G6PD deficiency is diagnosed through a specific blood test that measures the amount of G6PD enzyme in your red blood cells. This test is different from routine blood work and must be specifically ordered. Many newborns are screened for G6PD deficiency at birth in areas where the condition is common.
If you suspect you have G6PD deficiency based on family history or symptoms, talk to your doctor about testing. The test is most accurate when you are not experiencing an episode of hemolytic anemia. Your doctor may also order additional blood tests to check for anemia and assess your overall red blood cell health.
Treatment options
- Avoid known triggers including certain medications and fava beans
- Learn which medications are safe and which to avoid
- Treat infections promptly to prevent hemolytic episodes
- Stay hydrated during any illness or stressful event
- Work with your doctor to create a personalized trigger list
- In severe episodes, hospitalization may be needed for supportive care
- Blood transfusions may be required in rare, serious cases
- Wear a medical alert bracelet to inform healthcare providers
Frequently asked questions
G6PD deficiency is a genetic disorder where your body doesn't make enough of an enzyme that protects red blood cells. Without enough of this enzyme, red blood cells can break down when exposed to certain triggers. This breakdown can cause episodes of anemia, but most people feel normal between episodes.
The most common triggers include certain medications like sulfa antibiotics and antimalarial drugs. Infections such as pneumonia or urinary tract infections can trigger episodes. Eating fava beans is a well-known trigger for many people with G6PD deficiency. Stress from serious illness or surgery can also cause red blood cells to break down.
Yes, women can have G6PD deficiency, but it's less common than in men. Women need to inherit two copies of the altered gene to have full symptoms. Many women are carriers with one altered gene and may have mild symptoms or none at all. Men only need one copy of the altered gene because they have just one X chromosome.
G6PD deficiency is diagnosed with a specific blood test that measures enzyme levels in red blood cells. This test must be specifically ordered by your doctor. The test is most accurate when performed when you are not having an anemic episode. Many newborns are screened for the condition at birth in areas where it's common.
For most people, G6PD deficiency is manageable and not life-threatening. The key is knowing your triggers and avoiding them. Most people live normal lives between episodes. However, severe hemolytic episodes can be serious and require medical attention. Wearing a medical alert bracelet helps ensure safe treatment in emergencies.
People with G6PD deficiency should avoid sulfa antibiotics, certain antimalarial drugs, and aspirin in high doses. Some pain medications and fever reducers can also trigger episodes. Always tell your doctor and pharmacist about your G6PD deficiency before starting any new medication. Your doctor can provide you with a personalized list of medications to avoid.
Most people with G6PD deficiency can eat a normal, healthy diet. The main food to avoid is fava beans, which can trigger severe episodes in many people. Some individuals may also react to other legumes or foods, but this varies. Focus on eating a balanced diet rich in fruits, vegetables, whole grains, and lean proteins.
No, G6PD deficiency is a genetic condition that lasts throughout life. However, some people have milder forms that cause fewer problems as they get older. Children with G6PD deficiency can live active, healthy lives by avoiding triggers. Parents should educate teachers and caregivers about the condition and which medications to avoid.
If you suspect a hemolytic episode, contact your doctor immediately. Signs include dark urine, yellowing skin, extreme fatigue, or rapid heartbeat. Stay well hydrated and rest. Stop taking any medication that might be a trigger after consulting your doctor. Severe episodes may require hospital care and supportive treatment.
G6PD deficiency affects about 400 million people worldwide, making it one of the most common enzyme deficiencies. It's most common in people of African, Mediterranean, Middle Eastern, and Southeast Asian descent. In some populations, up to 25 percent of men may carry the gene. The condition evolved in areas where malaria is common because it may provide some protection against the disease.