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G6PD Deficiency

What is G6PD Deficiency
What Causes G6PD Deficiency?
What Can Trigger Symptoms Related to This Condition?
Signs and Symptoms
Diagnosis and Treatment
Caring for Your Child

What Can Trigger Symptoms Related to This Condition?

Children who have G6PD deficiency typically do not show signs of the disorder until their red blood cells are exposed to higher-than-normal amounts of oxidative stress. Oxidative stress can be caused by:

illness, including bacterial and viral infections
certain medications, including painkillers and fever-reducing drugs that contain aspirin or phenacetin
sulfonamides and sulfones, two classes of infection-fighting drugs; there are many different medications in these categories, but usually they have "sulf," "sulfa," or "sulfo" in their names
antimalarial drugs, such as quinine, chloroquine, primaquine, and others with "quine" in their names
other miscellaneous medications, such as methylene blue (used to treat urinary infections) and vitamin K

other substances that can be harmful when consumed - or even touched - such as fava beans and naphthalene (a chemical found in mothballs and moth crystals). Accidental swallowing of mothballs by children with G6PD deficiency is especially harmful; for these children, any contact with mothballs should be avoided. It appears that fava beans are mostly a problem for some children of Mediterranean descent who have the condition.

Some children can tolerate the medications mentioned above in small amounts; others cannot take them at all. Check with your doctor for more specific instructions, as well as a complete list of medications that could pose a problem for a child with G6PD deficiency.

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Signs and Symptoms

If your child has G6PD deficiency and is exposed to a medication or infection that causes oxidative stress in his blood cells, sometimes there are no symptoms at all. In more serious cases, your child may exhibit symptoms of anemia, 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
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. When symptoms are mild, no medical treatment is usually needed. If symptoms are more severe, a child may need to be hospitalized for supportive medical care. As the body naturally produces new red blood cells, those cells will not have been exposed to the oxidative stress triggered by the prior illness, medication, or other agent, and the anemia will improve.

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Diagnosis and Treatment

In most cases, it is not known from birth that a child has G6PD deficiency, until his red blood cells are exposed to oxidative stress and he develops symptoms of the disorder from the resulting anemia. If doctors suspect G6PD deficiency, laboratory tests are ordered to help make the diagnosis. These include a complete blood count, a blood smear (where blood is smeared onto a glass slide and the blood cells are examined under a microscope), and special blood tests that directly measure G6PD activity or look for specific DNA. Additional blood tests are usually done as well to make sure there are no other possible causes of the anemia.

If you feel that your baby or child may be at risk for G6PD deficiency because of either a family history of the condition or your ethnic background, talk to your child's doctor about a screening test. This involves the blood tests used to diagnose the condition. Washington, DC, requires that all newborn babies be screened for the deficiency.

Treating the symptoms associated with G6PD deficiency is usually as simple as removing the trigger - that is, treating your child's illness or infection or discontinuing the use of a certain drug. However, severe anemia may require treatment in the hospital, such as supportive care with oxygen and fluids, and sometimes a transfusion of healthy blood cells. In rare cases, the deficiency can lead to kidney failure or shock, requiring intensive care in the hospital until the child recovers.

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Caring for Your Child

The best way to care for your child is to limit his or her exposure to the triggers of symptoms related to G6PD deficiency. See your child's doctor if your child becomes ill, develops an infection, or is exposed to the medications or other substances that can trigger a hemolytic episode and significant anemia. With the proper precautions, G6PD deficiency should not keep your child from living a healthy, active life.

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