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G6PD deficiency


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.

Causes of G6PD Deficiency

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 African-American males. Many African-American females are carriers of G6PD deficiency, meaning they can pass the gene for the deficiency to their children but do not have symptoms; only a few are actually affected by G6PD deficiency.

G6PD Deficiency Symptom Triggers

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 sulpha drugs)
* certain antimalarial drugs (especially those that have “quine” in their names)
Other substances can be harmful to kids with this condition when consumed — or even touched — such as fava beans and naphthalene

Symptoms of G6PD Deficiency

A child with G6PD deficiency who is exposed to a medication or infection that triggers the destruction of RBCs may have no 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

Diagnosing and Treating G6PD Deficiency

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 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.