What is G6PD deficiency?
G6PD deficiency is the lack of glucose-6-phosphate dehydrogenase (G6PD). G6PD is an enzyme found in red blood cells. A lack of it can cause hemolytic anemia. This is when the red blood cells are destroyed faster than they are made.
G6PD deficiency is inherited. It occurs most often in males.
What causes G6PD deficiency?
Females who carry one copy of the gene can pass G6PD deficiency to their children.
- Boys who get the gene have G6PD deficiency.
- Girls who get the gene are carriers and generally do not have symptoms.
The condition is rare in females.
G6PD deficiency is seen in about 10% of African-American males in the U.S. It is also common in people from the Mediterranean area, Africa, or Asia.
The severity of G6PD deficiency differs among these people. In African-American people, the problem is mild and mainly affects older red blood cells.
In whites, G6PD deficiency tends to be more serious. In this group, young red blood cells are affected.
What are the symptoms of hemolytic anemia?
G6PD can cause hemolytic anemia. These are the most common symptoms of hemolytic anemia:
- Pale skin
- Jaundice, or yellowing of the skin, eyes, and mouth
- Dark-colored urine
- Trouble with physical activity
- Enlarged spleen and liver
- Increased heart rate
- Heart murmur
The symptoms of hemolytic anemia may look like other medical problems. Always consult your health care provider for a diagnosis.
How is G6PD deficiency diagnosed?
Your health care provider can diagnose G6PD deficiency with a simple blood test. You may need this test:
- If your ancestors come from an area where G6PD deficiency is common
- If you have a family history of G6PD deficiency
- If 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 does not cause problems. Problems may occur if you are exposed to medicines or foods that may damage your blood cells. Depending on your gene flaw, you may be able to handle a small amount of these exposures.
Your health care provider will figure out the best treatment based on:
- How old you are
- Your overall health and medical history
- How sick you are
- How well you can handle specific medicines, procedures, or therapies
- How long the condition is expected to last
- Your opinion or preference
Treatment may include:
- Avoiding certain medicines, foods, and environmental exposures
- Telling your health care providers that you have G6PD deficiency
- Checking with your health care provider before taking any medicine
Living with G6PD deficiency
If you have G6PD deficiency, you will need to avoid:
- Aspirin, and aspirin-containing products
- Certain antibiotics
- Fava beans
- Moth balls
These can trigger hemolytic anemia.
Key points about G6PD deficiency
- G6PD deficiency is the lack of the enzyme glucose-6-phosphate dehydrogenase) in the blood.
- It is a genetic health problem that is most often inherited by males. Females do not usually get it. But they can be carriers and pass it to their children.
- G6PD deficiency can cause hemolytic anemia. This condition happens when the red blood cells break down faster than the body can make them.
- In G6PD deficiency, hemolytic anemia can be triggered by aspirin, certain antibiotics fava beans, and moth balls.
- Management of G6PD deficiency includes avoiding certain medicines, foods, and environmental exposures.
Tips to help you get the most from a visit to your health care provider:
- 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 names of new medicines, treatments, or tests, and any new instructions your provider gives you.
- 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.