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Patient education: Glucose-6-phosphate dehydrogenase deficiency (The Basics)

Patient education: Glucose-6-phosphate dehydrogenase deficiency (The Basics)

What is glucose-6-phosphate dehydrogenase deficiency? — Glucose-6-phosphate dehydrogenase deficiency, also called "G6PD deficiency," is a condition that involves the red blood cells. G6PD is a protein in the red blood cells that helps them work normally. People with G6PD deficiency have too little G6PD in their red blood cells.

People with too little G6PD in their cells are more sensitive to certain foods, medicines, and chemicals. If they are exposed to these foods, medicines, or chemicals, their red blood cells can be destroyed. This is called "hemolysis." It can lead to a condition called anemia, which is when the body has too few red blood cells.

G6PD deficiency is a condition people are born with. It is caused by an abnormal gene. G6PD deficiency is more common in some groups of people than others. It is more common in people whose ancestors came from Africa, the Mediterranean area, or parts of Asia, South America, or the Middle East.

In most people with G6PD deficiency, hemolysis doesn't happen all the time. Episodes of hemolysis happen only when they are triggered by something. Common triggers include:

Certain infections

Certain medicines, such as "sulfa" antibiotics and medicines to treat malaria

Specific foods, such as fava beans

Breathing in or touching certain chemicals, such as those in moth balls

What are the symptoms of G6PD deficiency? — Symptoms depend on the person.

Most people have no symptoms until an episode of hemolysis is triggered by one of the things listed above. Then symptoms can include:

Jaundice, which is when your skin or the whites of your eyes turn yellow

Pale skin, or paleness of the lips, tongue, or inside of the eyelid

Dark-colored urine

Back or belly pain

Tiredness, fatigue, or headache caused by anemia

Sometimes, newborn babies can have jaundice. And some people can have hemolysis all the time, no matter what they eat or what medicines they take.

Is there a test for G6PD deficiency? — Yes. To check for this condition, your doctor or nurse will order different blood tests to check for anemia, hemolysis, and the G6PD level.

How is G6PD deficiency treated? — Treatment depends on your symptoms and how severe your anemia is. Most people just need to know which foods, medicines, and chemicals they should avoid. Lists of medicines to avoid can be found on various websites such as www.g6pd.org or from your doctor or nurse. Fava beans are a food that triggers hemolysis in many people.

If you have symptoms caused by a medicine you take or a food you eat, your doctor or nurse will have you stop taking that medicine or eating that food. In general, you should avoid foods, medicines, and chemicals that commonly trigger symptoms.

People with severe anemia are sometimes treated with a blood transfusion. This involves getting blood that has been donated by someone else. The donated blood goes into your vein through a thin tube called an "IV." People with severe hemolysis may also need to get fluids through a vein.

Babies with jaundice are often treated with "light therapy," also called "bili lights." During light therapy, a doctor or nurse puts a baby under a special blue light (image 1) or wraps a "light blanket" around the baby. This helps the baby's system get rid of the harmful parts of the destroyed red blood cells.

People with long-term anemia might be treated with a vitamin called folic acid (also called folate), but this is not common.

What if I want to get pregnant? — People with G6PD deficiency generally have a normal pregnancy. If you want to get pregnant, talk with your doctor or nurse before you start trying. There might be special things you should do. You might also need to avoid certain medicines.

Also, there is a chance you will pass the gene that causes the condition to your baby. If you have questions about this, you can talk with a genetic counselor or another person who specializes in genetic conditions.

More on this topic

Patient education: Complete blood count (CBC) (The Basics)
Patient education: Jaundice in babies (The Basics)

Patient education: Jaundice in newborn infants (Beyond the Basics)

This topic retrieved from UpToDate on: Mar 03, 2022.
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