What is G6PD deficiency?
G6PD deficiency is an inherited condition. It is when the body doesn’t have enough of an enzyme called G6PD (glucose-6-phosphate dehydrogenase). This enzyme helps red blood cells work correctly. A lack of this enzyme can cause hemolytic anemia. This is when the red blood cells break down faster than they are made.
What causes G6PD deficiency?
G6PD deficiency is inherited. This means it is passed down from parents through their genes.
Women who carry one copy of the gene can pass G6PD deficiency to their children.
- Men who get the gene have G6PD deficiency.
- Women who get the gene are carriers. They often don’t have symptoms. But they can pass the gene onto their children.
Who is at risk for G6PD deficiency?
G6PD deficiency occurs most often in men. It is rare in women.
The disorder affects about 10 to 14 out of 100 African-American men in the U.S. It is also common in people from the Mediterranean area, Africa, or Asia.
The severity of the disorder varies, depending on the group. In African Americans, the problem is mild. It mainly affects older red blood cells. In whites, the disorder is often more serious.
What are the symptoms of hemolytic anemia?
G6PD can cause hemolytic anemia. This is when the red blood cells break down faster than they are made. Symptoms of hemolytic anemia include:
- Pale skin
- Yellowing of the skin, eyes, and mouth (jaundice)
- Dark-colored urine
- Trouble with physical activity
- Enlarged spleen and liver
- Increased heart rate
- Heart murmur
Many of these symptoms can be caused by other health problems. Always see your healthcare provider for a diagnosis.
How is G6PD deficiency diagnosed?
Your healthcare provider can diagnose G6PD deficiency with a simple blood test. You may need this test if:
- Your family comes from an area where this condition is common
- You have a family history of G6PD deficiency
- You have an unknown form of anemia
Your provider may repeat tests to make an accurate diagnosis.
How is G6PD deficiency treated?
In most cases, G6PD deficiency doesn't cause problems. Problems may occur if you are exposed to medicines or foods that may harm your blood cells. Depending on your gene flaw, you may be able to handle a small amount of these exposures.
Treatment will depend on your symptoms, age, and general health. It will also depend on how severe the condition is.
Treatment may include:
- Staying away from certain medicines, foods, and environmental exposures
- Telling your healthcare providers that you have G6PD deficiency
- Checking with your provider before taking any medicine
Living with G6PD deficiency
If you have this condition, you will need to stay away from things that can trigger hemolytic anemia. These include:
- Aspirin, and products that have aspirin
- Certain antibiotics
- Fava beans
- Moth balls
Key points about G6PD deficiency
- G6PD deficiency is the lack of the G6PD enzyme in the blood.
- It is a genetic health problem that is most often inherited by men. Women don't often get it. But they can be carriers and pass it to their children.
- It can cause hemolytic anemia. This is when the red blood cells break down faster than the body can make them.
- It affects about 10 to 14 out of 100 African-American men in the U.S. It is also common in people from the Mediterranean area, Africa, or Asia.
- Treatment includes staying away from certain medicines, foods, and environmental exposures.
Tips to help you get the most from a visit to your healthcare provider:
- Know the reason for your visit and what you want to happen.
- Before your visit, write down questions you want answered.
- Bring someone with you to help you ask questions and remember what your provider tells you.
- At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.
- Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.
- Ask if your condition can be treated in other ways.
- Know why a test or procedure is recommended and what the results could mean.
- Know what to expect if you do not take the medicine or have the test or procedure.
- If you have a follow-up appointment, write down the date, time, and purpose for that visit.
- Know how you can contact your provider if you have questions.
Cedars-Sinai has a range of comprehensive treatment options.