G6PD Deficiency

by Dr. Saul Greenberg

What Is G6PD Deficiency?

G6PD deficiency is the lack of glucose-6-phosphate dehydrogenase, an enzyme present in red blood cells, which can cause a type of anemia known as hemolytic anemia. Red blood cells carry oxygen in the body and G6PD protects these cells from natural oxygen chemicals (oxidative substances) that may build up. This may occur when you have a fever, take certain medications like pain medicines, certain antibiotics, and drugs to treat malaria, or when you are exposed to other specific substances, such as mothballs or fava beans. If there are too many of these chemicals, they can destroy the red blood cells prematurely.

What Causes G6PD Deficiency?

About 400 million people worldwide have G6PD deficiency, making it the most common inherited enzyme deficiency. G6PD deficiency is inherited as an X-linked, recessive condition, meaning that this condition usually occurs in boys. Although the condition has been found in most groups of people, it is most common in African-American males and people of Mediterranean heritage, including Italians, Greeks, Arabs, and Sephardic Jews. The condition tends to be milder in African Americans and more severe in people of Mediterranean descent.

What does it look like?

If your child 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 pallor, fatigue, rapid heartbeat, rapid breathing or shortness of breath, jaundice( yellowing of the skin and eyes), an enlarged spleen, or 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. Newborns may develop persistent and more serious jaundice as a result of G6PD.

How is it diagnosed?

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 CBC, a blood smear, 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.

How is it treated?

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. You should always check with your doctor or pharmacist before taking any medication. Be careful about using herbal, naturopathic or other alternative complementary therapies. It is important to avoid the foods and drugs below.



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