If you’ve never heard the term “G6PD deficiency”, don’t worry!  Although this is a common enzyme deficiency, it does not get much attention from the press and many people may not know that much about it.  This article covers the basics of this deficiency, including its symptoms, how it is diagnosed and how it is treated. Read on to find out more about this deficiency.

What is a G6PD Deficiency?

First, let’s talk about G6PD itself.  G6PD stands for glucose-6-phosphate dehydrogenase. This is an enzyme which has many purposes in the body.  One of them is to help the body process carbohydrates. Another is to protect red blood cells from harmful substances that can build up in your system if you are taking certain medications or if you are fighting off an infection like the cold or a flu.

If you lack this enzyme, however, then red blood cells can break down when you are sick or taking medications.  This breakdown is called hemolysis and it can cause a number of signs and symptoms.

G6PD deficiency is the most common enzyme deficiency — over 400 million people worldwide have this condition. It affects around 10% of African American males, 20% of males in Africa and between 3-35% of those of Mediterranean or Southeast Asian descent.

What Causes a G6PD Deficiency?

G6PD deficiency is inherited.  Mothers pass this condition on to their sons, who develop signs and symptoms and to their daughters, who become carriers for the condition. It is very rare for females to develop this disorder and fathers cannot pass it onto their sons.  It is similar to the way color blindness is passed down.

There are certain triggers to this condition which cause the breakdown of red blood cells. These include:

  • Infections
  • Severe stress
  • Certain foods like fava beans
  • Medications like aspirin, some antibiotics (like nitrofurantoin or sulfa drugs), anti-malarial drugs (like quinidine)
  • Exposure to naphthalene, a substance in mothballs

Who is at Risk for This Disease?

There are several risk factors for this condition, including:

  • Family history
  • Male gender. Females can acquire it only very rarely.
  • Those of African, Mediterranean (such as Greek or Italian), or Middle Eastern (especially Arab or Sephardic Jewish) descent. Symptoms of this condition tend to be mild in those of African descent and severe in those of Mediterranean descent. This disease is believed to make it more difficult for someone to develop malaria, so many researchers think that people in malarial areas evolved this as a means of avoiding this disease.

How Do You Know if You Have a G6PD Deficiency?

Some people with this deficiency are asymptomatic, meaning they do not have any signs or symptoms.  Others get symptoms only when they are having an episode of hemolysis. The most common signs and symptoms include:

  • Dark or tea-colored urine
  • Fatigue, or feeling tired a lot even when you get a lot of sleep
  • Pale skin
  • Getting short of breath easily
  • Jaundice, where your skin or the white of your eyes get yellowish
  • Increased heart rate
  • An enlarged spleen

How Does the Doctor Know if You have G6PD Deficiency?

If a doctor suspects that you have a G6PD deficiency, there are several tests he or she can run in order to get a diagnosis. These tests include:

  • G6PD blood levels
  • Complete blood count (CBC) to determine your levels of red blood cells
  • Tests to look at the hemoglobin levels in your blood and urine
  • Other tests include the LDH test, methemoglobin test, and reticulocyte count

How Does the Doctor Treat this Condition?

The good news is that if your signs and symptoms are mild, then no treatment is necessary for this condition.  Many times, even if you have had an episode of hemolysis, you will recover on your own as your body begins to build up red blood cells once again.

However, sometimes further treatment will be necessary. This can include:

  • Medications to treat an infection, if needed
  • Changing the medications you are currently taking (if one of them is causing the problem to begin with)
  • Avoiding triggers
  • Transfusions, if the hemolytic reaction has been severe

The good news is that, with the right treatment and avoiding triggers, kids with this condition can lead a healthy, normal life.

What Complications Come from G6PD Deficiency?

The most common complication from G6PD deficiency is an episode of hemolytic anemia episode; if it is severe, it may require a blood transfusion and hospitalization for supportive care. However, this is uncommon and can be prevented through avoiding known triggers.

In short, GRPD deficiency is more common than many people think — but while it can be serious if the hemolytic attack is severe, it can mostly be controlled through avoiding certain medications and foods that trigger the problem to begin with.  Overall, people with this condition can lead happy and full lives as long as they are careful.