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Glucose-6-phosphate dehydrogenase deficiency is also known as G6PD deficiency. It occurs when the body does not have enough of an enzyme called G6PD. This enzyme is needed to help the red blood cells (RBCs) do their job. The RBCs carry oxygen throughout the body. With G6PD deficiency, the RBCs are more likely to break down or be destroyed. If the body does not have enough healthy RBCs, it causes a condition called anemia. Your child’s healthcare provider can evaluate your child and discuss treatment options with you.
G6PD deficiency is inherited. This means that it is passed down from parent to child. When a child has this condition, parents and siblings should also be tested.
G6PD deficiency affects certain populations more often than others, such as African-Americans, Mediterraneans, and Southeast Asians. It is also more common in males than females.
Certain “triggers” make symptoms more likely to develop. These include:
Exposure to certain chemicals (such as naphthalene, found in mothballs)
Eating certain foods (such as fava beans)
Taking certain medications (such as some types of antibiotics)
Having a bacterial or viral infection, or certain other illnesses
Some children have no symptoms at all or only develop symptoms when exposed to certain triggers. Other children have ongoing symptoms, even chronic anemia. Possible symptoms include:
Shortness of breath
Inability to do normal amounts of physical activity (exercise intolerance)
Dizziness or fainting
Yellowing of the skin, eyes, or mouth (jaundice)
Your child may be referred to a pediatric hematologist for diagnosis and treatment. This is a doctor who specializes in blood disorders (hematology). The doctor will examine your child and ask about your child’s symptoms, medications, diet, and health and family history. Tests are also done. Most of the tests are performed by taking a blood sample from a vein in the arm or from a finger or heel. Tests may include:
A complete blood cell count (CBC) to measure the amounts of types of cells in the blood, especially RBCs.
A blood smear to check the sizes and shapes of the blood cells. A drop of blood looked at with a microscope. A stain is added to make the parts of the blood cells easier to see.
A reticulocyte count to measure the amount of new RBCs being made by the bone marrow.
Specific blood tests to check the level of G6PD enzyme activity in the blood cells.
The goal of treatment is to remove the cause or trigger of your child’s symptoms. Discuss with the doctor how to help your child prevent symptoms. Some common triggers of G6PD deficiency include fava beans, mothballs, and tonic water. Also, certain medications are triggers for symptoms. Ask the doctor for a list of these medications and other triggers.
In severe cases, hospital care is needed to help manage symptoms.
In most cases, children with G6PD deficiency can learn to manage their condition. They can be as active and independent as other children. Tell all of your child’s healthcare providers, including the pharmacist, that your child has this condition.
For more information, start with the following resources:
G6PD Deficiency Association www.g6pd.org
National Library of Medicine www.nlm.nih.gov/medlineplus/ency/article/000528.htm