G6PD Deficiency

The body needs adequate amounts of red and white blood cells to keep tissues oxygenated, fight infection, and maintain health. Enzymes are proteins that help regulate biochemical reactions and metabolism in the body and cells. In the case of red blood cells, glucose-6-phosphate dehydrogenase (G6PD) is a very important enzyme. It keeps red blood cells healthy so they can function properly and live a normal life span of approximately 120 days.

G6PD deficiency is a genetic abnormality that results in an inadequate amount of this necessary enzyme. Without enough of it, red blood cells can be destroyed, leading to anemia. This can happen especially after consuming fava beans, some legumes, and certain medications such as:

  • antimalarials (a type of medication used to prevent and treat malaria, such as quinine)
  • sulfonamides (a medication used for treating certain types of infection)
  • aspirin (used for relieving fever, pain, and swelling)
  • some nonsteroidal anti-inflammatory medications (NSAIDs)

The destruction of red blood cells is called hemolysis (breakdown of red blood cells) and the resulting anemia is called a hemolytic anemia. Infections and high levels of stress can also trigger the destruction of red blood cells in individuals with this condition.

The condition is most commonly seen in Africa, where it can affect up to 20 percent of individuals, according to the G6PD Deficiency Foundation. (G6PD Deficiency Foundation, 2012) There are hundreds of variations of the deficiency; once an individual finds out they are G6PD deficient, then variant testing can be performed to further classify the condition.

The deficiency is seen more in men than in women and the defect is carried on the X chromosome. Therefore, a mother can pass the condition to a son who will be affected by the condition. If the genetic defect is passed to a daughter, she will be a carrier and will not be clinically affected by the condition.

Risk Factors for G6PD Deficiency

Risk factors are characteristics that can make it more likely for you to develop a condition. Having one or more does not necessarily mean you will get the condition. Talk with your doctor about your risk factors for G6PD deficiency. Some risk factors of the condition include:

  • being male
  • being African American
  • having a family history of the condition
  • being of Middle Eastern descent

Symptoms of G6PD Deficiency

Symptoms of the condition can include:

  • rapid heart rate
  • fast breathing
  • urine that is dark and yellow-orange
  • spike in body temperature
  • yellowing of the skin
  • enlargement of spleen

Diagnosing G6PD Deficiency

A simple blood test can be done to check your level of the G6PD enzyme. Other tests that may be done include a complete blood count, hemoglobin, checking your bilirubin level, and a reticulocyte count, which measures immature red blood cells.

Tell your doctor about your diet and any medications you are taking. These details can help your doctor with the diagnosis.

Treatment of G6PD Deficiency

If there is an infection present that triggered the condition, the underlying infection is treated accordingly. Any medications you are on that may be destroying red blood cells are discontinued. There is no cure for the condition, but in severe cases, a blood transfusion may be necessary. Individuals can recover from the hemolysis caused by G6PD deficiency on their own, but severe hemolytic events do occur. Close monitoring of these episodes is critical.

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

Complications

If a severe hemolytic event occurs and is not treated, kidney failure or death can occur. This is very rare. Talk with your doctor about when to call the doctor and how you can stay healthy with this condition.