What is G6PD deficiency?

G6PD deficiency is a genetic abnormality that results in an inadequate amount of glucose-6-phosphate dehydrogenase (G6PD) in the blood. This is a very important enzyme (or protein) that regulates various biochemical reactions in the body.

G6PD is also responsible for keeping red blood cells healthy so they can function properly and live a normal life span. Without enough of it, red blood cells break down prematurely. This early destruction of red blood cells is known as hemolysis, and it can eventually lead to hemolytic anemia.

Hemolytic anemia develops when red blood cells are destroyed faster than the body can replace them, resulting in reduced oxygen flow to the organs and tissues. This can cause fatigue, yellowing of the skin and eyes, and shortness of breath.

In people with G6PD deficiency, hemolytic anemia can occur after eating fava beans or certain legumes. It may also be triggered by infections or by certain drugs, such as:

  • antimalarials, a type of medication used to prevent and treat malaria
  • sulfonamides, a medication used for treating various infections
  • aspirin, a drug used for relieving fever, pain, and swelling
  • some nonsteroidal anti-inflammatory medications (NSAIDs)

G6PD deficiency is most prevalent in Africa, where it can affect up to 20 percent of the population. The condition is also more common in men than in women.

Most people with G6PD deficiency usually don’t experience any symptoms. However, some may develop symptoms when they’re exposed to the medication, food, or infection that triggers the early destruction of red blood cells. Once the underlying cause is treated or resolved, symptoms of G6PD deficiency usually disappear within a few weeks.

Symptoms of G6PD deficiency can include:

  • rapid heart rate
  • shortness of breath
  • urine that is dark or yellow-orange
  • fever
  • fatigue
  • dizziness
  • paleness
  • jaundice, or yellowing of the skin and whites of the eyes

G6PD deficiency is a genetic condition that is passed along from one or both parents to their child. The defective gene that causes this deficiency is on the X chromosome, which is one of the two sex chromosomes. Men have only one X chromosome, while women have two X chromosomes. In males, one altered copy of the gene is enough to cause G6PD deficiency.

Females are usually affected if there is a mutation present in both copies of the gene, though in some cases, females with one G6PD mutation can also experience symptoms. Since females have two X chromosomes, males are affected by G6PD deficiency much more frequently than females.

You may have a higher risk of having G6PD deficiency if you:

  • are male
  • are African-American
  • are of Middle Eastern descent
  • have a family history of the condition

Having one or more of these risk factors doesn’t necessarily mean that you will have G6PD deficiency. Talk with your doctor if you’re concerned about your risk for the condition.

Your doctor can diagnose G6PD deficiency by performing a simple blood test to check G6PD enzyme levels.

Other diagnostic tests that may be done include a complete blood count, serum hemoglobin test, and a reticulocyte count. All these tests give information about the red blood cells in the body. They can also help your doctor to diagnose hemolytic anemia.

During your appointment, it’s important to tell your doctor about your diet and any medications you’re currently taking. These details can help your doctor with the diagnosis.

Treatment for G6PD deficiency consists of removing the trigger that is causing symptoms.

If the condition was triggered by an infection, then the underlying infection is treated accordingly. Any current medications that may be destroying red blood cells are also discontinued. In these cases, most people can recover from an episode on their own.

Once G6PD deficiency has progressed to hemolytic anemia, however, more aggressive treatment may be required. This sometimes includes oxygen therapy and a blood transfusion to replenish oxygen and red blood cell levels.

You will need to stay in the hospital while receiving these treatments, as close monitoring of severe hemolytic anemia is critical for ensuring a full recovery without complications.

Many people with G6PD deficiency never have any symptoms. Those who do completely recover from their symptoms once treatment is received for the underlying trigger of the condition. However, it’s important to learn how you can manage the condition and prevent symptoms from developing.

Managing G6PD deficiency involves avoiding foods and medications that can trigger the condition. Reducing stress levels can also help in controlling symptoms. Ask your doctor for a printed list of medications and foods that you should avoid.