What is G6PD deficiency?

G6PD deficiency is a lifelong genetic disorder that causes red blood cells to break down when exposed to certain foods, medicines or chemicals (triggers). People with G6PD deficiency — who are almost always male — are normally healthy but must avoid these triggers.

The breakdown of red blood cells, called 'haemolysis', can lead to anaemia (lack of red blood cells) and jaundice (the yellowing of skin and eyes).

Certain triggers can cause red blood cells to be destroyed faster than they can be replaced. In this case, a person with G6PD deficiency can develop acute haemolytic anaemia (AHA), which can be life-threatening, especially in children.

Triggers can include:

• medicines such as some antibiotics, malaria medications (both for the prevention and treatment of malaria), aspirin, some anti-cancer drugs and large doses of vitamin C
• some chemicals, including mothballs (naphthalene)
• some foods, particularly fava beans (broad beans), tonic water or blueberries
• certain infections

Acute haemolytic anaemia requires medical attention. If you or your child develops jaundice (yellow skin and eyes), dark-coloured urine, pale skin or lethargy, see your doctor as soon as possible.

If you’re not sure what to do, you can call the healthdirect helpline to speak with a registered nurse on 1800 022 222, 24 hours a day.

What are the symptoms of G6PD deficiency?

Most people with G6PD live without symptoms most of the time. But the common signs and symptoms include:

• dark-coloured urine
• very pale skin
• yellow skin, eyes or tongue
• breathlessness
• an enlarged spleen
• very fast heart rate
• low back pain
• fever
• diarrhoea, nausea or abdominal pain

In newborn babies, G6PD deficiency usually presents as jaundice.

What causes G6PD deficiency?

People with G6PD deficiency do not have enough of an enzyme called glucose-6-phosphate dehydrogenase (G6PD). This enzyme helps protects red blood cells from damage.

G6PD deficiency is a lifelong genetic condition that is normally passed down through the mother. It is more common in males, and people with a Mediterranean, African, Asian, South American or Middle Eastern background.

How is G6PD deficiency diagnosed?

The condition is diagnosed with blood tests, which are also used to rule out other conditions. It is recommended that if one child in the family is diagnosed with G6PD deficiency, other children should be tested.

How is G6PD deficiency treated?

Most people do not need any treatment — they manage their condition by avoiding the triggers. Your doctor will give you a list of things to avoid and tips to manage the condition.

If you develop anaemia, it will need to be treated, potentially with a blood transfusion. Babies with jaundice are treated by being placed under special lights called 'bili lights'. In the most severe cases, an exchange transfusion may be needed (some of the infant’s blood is removed and replaced with donor blood or plasma).

Always tell your doctor about your condition before taking any medicines, so they do not prescribe something that could trigger the condition. If you buy medicine without a prescription, talk to your pharmacist and read the label carefully. You also need to be careful about using any herbal and alternative medicines.

Having a virus or infection can stress the body and lead to haemolysis in people with G6PD deficiency. See your doctor if you or your child develops an infection.

Complications of G6PD deficiency

If a person with G6PD deficiency eats fava beans, they can develop favism. This is an episode of acute haemolytic anaemia . It can happen rapidly and mostly affects children.

Symptoms of favism in children include a slight temperature and change in behaviour, such as being irritable and naughty, or subdued and quiet. They might develop nausea, diarrhoea or a tummy ache. In 6 to 24 hours, their urine will grow dark and their heart rate may get faster. Finally, the jaundice develops.

People with favism are always G6PD-deficient, but not all people with G6PD deficiency react this strongly to fava beans.

Resources and support

For more information and support, you can contact this organisation:

• Genetic Alliance Australia