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.
What is 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.
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)
- certain infections
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.
Signs and 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
- an enlarged spleen
- very fast heart rate
- low back pain
- diarrhoea, nausea or abdominal pain
In newborn babies, G6PD deficiency usually presents as jaundice.
What is 'favism'?
Favism is an episode of acute haemolytic anaemia that occurs after a person with G6PD deficiency has eaten fava beans. It can happen rapidly and mostly affects kids. In children, it might cause 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.
Diagnosis of G6PD deficiency
The condition is diagnosed with blood tests, which are used to rule out other conditions, as well. It’s recommended that if one child in the family is diagnosed with G6PD deficiency, other children should be tested.
Treatment of G6PD deficiency
Most people don't need any treatment — they manage their condition by avoiding the triggers.
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).
When to seek help
If people with G6PD deficiency are exposed to a trigger, they can very quickly develop acute haemolytic anaemia, which requires medical attention. If you or your child develops jaundice (yellow skin and eyes), dark-coloured urine, pale skin or lethargy, see your GP 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 (known as NURSE-ON-CALL in Victoria).
Living with G6PD deficiency
If you have G6PD deficiency, you will need to avoid the triggers. Your doctor will give you a list of things to avoid and tips to manage the condition.
Always tell your doctor about your condition before taking any medicines, so they don't 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.
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Last reviewed: May 2019