What is G6PD deficiency?

G6PD deficiency is when the body is missing or 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 normally would. So instead of circulating for 90 days, the red blood cells are destroyed earlier. This results in a low number of red blood cells called anemia.

What causes G6PD deficiency?

G6PD deficiency is inherited. It is caused by changes (mutations) to the G6PD gene. The gene is located on the X chromosome and is passed from parents to their children. Boys only get one copy of the X chromosome with the G6PD gene from their mothers, but girls get a copy from their mother and father. This makes girls less likely to have G6PD deficiency than boys because they have two sources of the enzyme.

• Boys who inherit the gene from their mother will have G6PD deficiency.

• Girls who get only one copy of the gene from their mothers and none from their fathers are carriers. They often don’t have symptoms. But they can pass the gene onto their children. If a girl inherits a faulty gene from both their mother and father, they will have symptoms of the disease.

Gender words are used here to talk about anatomy and health risk. Please use this information in a way that works best for you and your provider as you talk about your care.

Who is at risk for G6PD deficiency?

G6PD deficiency occurs most often in men. It is rare in women.

The disorder is more common in people of African descent than whites. It affects about 1 in 10 African-American men in the U.S. It is also common in people from areas in the Mediterranean, Africa, Asia, and Middle East.

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 G6PD deficiency?

Symptoms can start as early as a newborn. Most people with this condition don't have symptoms until they are exposed to certain things that can set off red blood cell destruction in the blood (called hemolysis). Some triggers are infections, certain medicines, foods and chemicals. 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 (paleness may be best seen in the mouth)

• Yellowing of the skin, eyes, and mouth (jaundice)

• Dark-colored urine

• Fever

• Weakness and extreme tiredness

• Dizziness

• Confusion

• Trouble with physical activity

• Shortness of breath or fast breathing

• Enlarged spleen

• 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 certain 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:

• Prevention. Staying away from certain triggers, such as specific medicines, foods, and environmental exposures.

• Telling your healthcare providers that you have G6PD deficiency

• Treating any triggering infection

• 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 set off hemolytic anemia. These include:

• Aspirin, and products that have aspirin

• Certain antibiotics and antimalarial medicine

• Fava beans (develop favism which can cause severe hemolytic anemia)

• Moth balls (have a chemical called naphthalene)

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 1 in 10 African-American men in the U.S. It is also common in people from the Mediterranean area, Africa, Middle East, or Asia.

• Treatment includes staying away from certain medicines, foods, and environmental exposures.

Next steps

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 healthcare provider if you have questions, especially after office hours or on weekends and holidays.