Introduction to G6PD Deficiency
This Overview of G6PD Deficiency is meant for those new to this condition and would like to get some understanding of what it is and how it affects us.
G6PD deficiency is a genetic disease that prevents the body from producing 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, called triggers. See drugs to avoid and foods to avoid for lists of things to avoid. By avoiding these triggers, a person with G6PD deficiency can lead a healthy and active life.
About G6PD Deficiency
G6PD is one of many enzymes that help the body process carbohydrates and turn them into energy. This process creates an enzyme called reduced glutathione which protects red blood cells from potentially harmful byproducts called oxidative substances created when consuming triggers or fighting some infections.
In people with G6PD deficiency, either the RBCs do not make enough G6PD or what is produced cannot properly function. Without enough G6PD to protect them, RBCs can be damaged or destroyed. Hemolytic anemia occurs when the bone marrow (the soft, spongy part of the bone that produces new blood cells) cannot compensate for this destruction by increasing its production of RBCs.
G6PD deficiency is passed along in genes from one or both parents to a child. The gene responsible for this deficiency is on the X chromosome.
G6PD deficiency is most common in people of African, Asian, Mediterranean or Middle Eastern decent. There are many variants of G6PD Deficiency, but the ones in Caucasians are usually the worst Many females are partially G6PD deficient, meaning they can pass the gene for the deficiency to their children but their symptoms are usually less severe unless both X chromosomes are affected.
People of Mediterranean heritage, including Italians, Greeks, Arabs, and Sephardic Jews, also are commonly affected. The severity of G6PD deficiency varies among these groups it tends to be milder in African-Americans and more severe in people of Mediterranean descent. For a scientific discussion of the different strains of G6PD Deficiency, go here.
Why does G6PD deficiency occur more often in certain groups of people? It is known that Africa and the Mediterranean basin are high-risk areas for the infectious disease malaria. Researchers have found evidence that the parasite that causes this disease does not survive well in G6PD deficient cells. So they believe that the deficiency may have developed as a protection against malaria, but this has not been proven.
Kids with G6PD deficiency typically do not show any symptoms of the disorder until their red blood cells are exposed to certain triggers, which can be:
- illness, such as bacterial and viral infections
- certain painkillers and fever-reducing drugs
- certain antibiotics (especially those that have “sulfa” in their names)
- certain antimalarial drugs (especially those that have “quine” in their names)
Some kids with G6PD deficiency can tolerate the medications in small amounts; others cannot take them at all. Check with your doctor for more specific instructions. Go here for a list of medications that could pose a problem for a child with G6PD deficiency.
Other substances can be harmful to kids with this condition when consumed, or even touched, such as fava beans and naphthalene (a chemical found in mothballs and moth crystals). Mothballs can be particularly harmful if a child accidentally swallows one, so ANY contact should be avoided.
A child with G6PD deficiency who is exposed to a medication or infection that triggers the destruction of RBCs may have no visible symptoms at all. In more serious cases, a child may exhibit symptoms of anemia (also known as a hemolytic crisis), including:
- paleness (in darker-skinned children paleness is sometimes best seen in the mouth, especially on the lips or tongue)
- extreme tiredness
- rapid heartbeat
- rapid breathing or shortness of breath
- jaundice, or yellowing of the skin and eyes, particularly in newborns
- an enlarged spleen
- dark, tea-colored urine
Once the trigger is removed or resolved, the symptoms of G6PD deficiency usually disappear fairly quickly, typically within a few weeks.
If symptoms are mild, no medical treatment is usually needed but if allowed to continue, mild hemolysis can lead to other more serious health conditions. 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.
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 either 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 the offending food or 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 some cases, the deficiency can lead to other more serious health problems or death.
Caring for Your G6PDD Child
The best way to care for a child with G6PD deficiency is to avoid exposure to triggers (Foods to Avoid and Drugs to Avoid). With the proper precautions, G6PD deficiency should not keep your child from living a healthy, active life. See Caring for G6PD Deficient Babies and Diet Suggestions for more information.