What causes G6PD deficiency?

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.

Who is at risk?

G6PD deficiency affects certain people more often than others. These include African Americans and people from the Mediterranean and Southeast Asia. It is also more common in males than females.

What are common triggers for symptoms?

Certain things make symptoms more likely to develop. These are called triggers. They include:

• Exposure to certain chemicals (such as naphthalene, found in mothballs)

• Eating certain foods (such as fava beans)

• Taking certain medicines (such as some types of antibiotics)

• Having a bacterial or viral infection, or certain other illnesses

What are the symptoms?

Most children have no symptoms at all. Or they only develop symptoms when exposed to certain triggers. These children generally have normal blood counts when not sick or exposed to a trigger. Other children have ongoing symptoms, even long-term (chronic) anemia. Possible symptoms include:

• Pale skin

• Sudden rise in body temperature

• Chills

• Lack of energy or tiring easily (fatigue)

• Heavy, fast breathing

• Nausea

• Dark urine

• Weak, rapid heartbeat

• Inability to do normal amounts of physical activity (exercise intolerance)

• Dizziness or fainting

• Yellowing of the skin, eyes, or mouth (jaundice)

• Belly (abdominal) pain

• Back pain

How is G6PD deficiency diagnosed?         

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, medicines, diet, and health and family history. Tests are also done. Most of the tests are done by taking a blood sample from a vein in the arm or from a finger or heel. Tests may include:

• Complete blood count (CBC). This measures the amounts of types of cells in the blood.

• Blood smear. This checks the size and shape of blood cells. A drop of blood is looked at with a microscope. A stain is added to make the parts of the blood cells easier to see. 

• Reticulocyte count. This measures the amount of new RBCs being made by the bone marrow.

• Other blood tests. Specific blood tests are done to check the level of G6PD enzyme activity in the blood cells.

How is G6PD deficiency treated?

• 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 medicines are triggers for symptoms. Ask the doctor for a list of these medicines and other triggers. Make sure you know when you should call your child's doctor.

• In severe cases, hospital care is needed to help manage symptoms.

What are the long-term concerns?

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.