G6PD deficiency is an inherited condition in which the body doesn't have enough of the enzyme glucose-6-phosphate dehydrogenase, or G6PD, which helps red blood cells (RBCs) function normally. This deficiency can cause hemolytic anemia, usually after exposure to certain medications, foods, or even infections. Most people with G6PD deficiency don't have any symptoms, while others develop symptoms of anemia only after RBCs have been destroyed, a condition called hemolysis. In these cases, the symptoms disappear once the cause, or trigger, is removed. In rare cases, G6PD deficiency leads to chronic anemia. With the right precautions, a child with G6PD deficiency can lead a healthy and active life.
G6PD deficiency occurs when a person is missing or does not have enough of an enzyme called glucose-6-phosphate dehydrogenase. This enzyme helps red blood cells work properly. Too little G6PD leads to the destruction of red blood cells. This process is called hemolysis. When this process is actively occurring, it is called a hemolytic episode. The episodes are most often brief. This is because the body continues to produce new red blood cells, which have normal activity.
Red blood cell destruction can be triggered by infections, severe stress, foods (such as fava beans), and certain drugs, including:
- Antimalarial drugs
- Sulfa drugs
Symptoms of G6PD deficiency can include:
- rapid heart rate
- shortness of breath
- urine that is dark or yellow-orange
- jaundice, or yellowing of the skin and whites of the eyes
Once the trigger is removed or resolved, the symptoms of G6PD deficiency usually disappear quickly, typically within a few weeks. If symptoms are mild, no medical treatment is usually needed. As the body naturally makes new red blood cells, the anemia will improve. If symptoms are more severe, a child may need to be hospitalized for supportive medical care.
You may have a higher risk of developing 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 get G6PD deficiency. Talk with your doctor if you’re concerned about your risk for the condition.
Diagnosis and Treatment
In most cases, cases of G6PD deficiency go undiagnosed until a child develops symptoms. If doctors suspect G6PD deficiency, blood tests usually are done to confirm the diagnosis and to rule out other possible causes of the anemia.
If you feel that your child may be at risk because of a family history or your ethnic background, talk to your doctor about performing a screening with blood tests to check for G6PD deficiency.
Treating the symptoms associated with G6PD deficiency is usually as simple as removing the trigger — that is, treating the illness or infection or stopping the use of a certain drug. However, a child with severe anemia may require treatment in the hospital to receive oxygen, fluids, and, if needed, a transfusion of healthy blood cells. In rare cases, the deficiency can lead to other more serious health problems.
The best way to care for a child with G6PD deficiency is to limit exposure to the triggers of its symptoms. With the proper precautions, G6PD deficiency should not keep your child from living a healthy, active life.