Definition and Overview

Every organ in the body needs a steady supply of oxygen-rich blood to function properly. The red blood cells are responsible for delivering the nutrients and oxygen that the organs need. These cells are produced in the bone marrow and have a lifespan of about 120 days. To function properly, the cells need an enzyme called glucose-6 phosphate dehydrogenase (G6PD). Unfortunately, some people have a condition called G6PD deficiency, which essentially means that the red blood cells lack the G6PD enzyme and aren’t providing the organs with the ideal amount of oxygen and nutrients.

When red blood cells lack the G6PD enzyme, they become more prone to harmful elements, and they die sooner than their expected lifespan, a condition referred to as hemolysis. Hemolysis can also occur due to other factors, such as certain types of medications or damage to an artificial heart.

G6PD deficiency is a genetic disorder of the red blood cells, which is usually passed down by the mother. To date, there is no treatment for the condition. Treatment methods currently available are designed to control the symptoms rather than correct the condition.

The disorder is more predominant in males and patients are usually asymptomatic. For those who display symptoms, it would be similar to the symptoms of anemia, such as jaundice, fatigue, general feeling of weakness, labored breathing, and a weak pulse.

The majority of disorders have only a negative impact on a person’s health. However, this isn’t the case for G6PD. Although the disorder does affect a person’s health negatively, it also has a positive effect. Studies have shown that people with G6PD deficiency display a natural immunity to malaria.

There are about nine variants of G6PD deficiency. Once a person is diagnosed with the disorder, the next step is to identify the correct variant. The two most common variants are G6PD A- and G6PD Mediterranean.

Cause of Condition

G6PD deficiency is a genetic disorder caused by mutations of the G6PD gene that contains instructions for the production of the G6PD enzyme. Since the red blood cells lack the G6PD enzyme, their lifespan is severely limited. The body is usually able to produce a sufficient amount of red blood cells to replace those that die naturally, but with cells dying sooner than expected, the body is unable to keep up with the demand.

Since G6PD is an inherited disorder, one of the common concerns of people diagnosed with the condition is the chances of them passing on the disorder to their children. Fortunately, having the disorder does not automatically mean that the children will be affected as well. There are different ways the disorder can be inherited, but the highest possibility that it will be transferred to the next generation is only 50%.

Key Symptoms

The symptoms of G6PD, such as jaundice, weakness, fatigue, heavy breathing, and a weak pulse, are common with other diseases. In fact, the symptoms may be so mild that some patients may think that they don’t need to be seen by a doctor.

While many patients continue living an active lifestyle even with G6PD deficiency, it is still important to be seen by a doctor if any of the symptoms is experienced. G6PD often reacts to certain triggers. Knowing what those triggers are can help patients avoid developing symptoms.

Who to See & Types of Treatment Available

People who experience the symptoms mentioned above are advised to consult their primary health care provider or a general practitioner.

G6PD deficiency cannot be cured, but it is very possible to minimize the symptoms. In fact, knowing what the triggers (involves certain types of food, medications, and infections, among others) are and avoiding them help patients avoid the symptoms altogether. It’s important for parents to have their children diagnosed because in the event that the child needs to be seen by a different doctor for the same or different condition, they can warn the attending physician of their child’s condition so that certain medications can be avoided.

When a patient is diagnosed with G6PD deficiency, the doctor will analyze what triggered the condition. To do this, he will require a list of the medications the patient have been taking, food that he consumed prior to noticing the symptoms, and chemicals that he may have come in contact.

Several blood tests will also be conducted to confirm the condition and identify the exact variant.

If the condition is severe, which means that the red blood cells are being destroyed at an alarming rate (acute hemolysis), the doctor may recommend a blood transfusion. If the kidney has been affected, dialysis may be performed. The patient will also be prescribed with medications that help induce the production of red blood cells.

However, it’s important to understand that medications, such as folic acid, or supplements like vitamin E and selenium, only help the body produce more red blood cells. Unfortunately, they cannot correct the disorder, which means that the severity of G6PD deficiency will not be reduced in any way.

Nevertheless, after receiving treatment to control the symptoms and information on the triggers, patients will be able to avoid such triggers and significantly reduce the chances of experiencing the symptoms again.

References:

  • Gregg XT, Prchal JT. Red blood cell enzymopathies. In: Hoffman R, Benz Jr. EJ, Shattil SJ, et al., eds. Hematology: Basic Principles and Practice. 5th ed. Philadelphia, PA: Churchill Livingston; 2008:chap 45.

  • Golan DER. Hemolytic anemias: red cell membrane and metabolic defects. In: Goldman L, Ausiello D, eds. Goldman's Cecil Medicine. 23rd ed. Philadelphia, PA: Saunders Elsevier; 2007:chap 165.

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