What should you know about the etiology of G6PD deficiency?

Glucose-6-phosphate dehydrogenase helps red blood cells handle oxidative stress. When enzyme activity is low, an infection, certain medicines, or fava beans can damage the cells and cause haemolysis, meaning red cells are removed faster than they are replaced.

A haemolytic episode may cause tiredness, yellowing of the eyes, pale skin or dark urine. Many people have no symptoms between episodes. The condition is inherited through genes, so family history and ancestry can help guide discussion, but neither alone confirms the diagnosis.

Tell every doctor, dentist and pharmacist about the diagnosis before starting a medicine, and ask about unfamiliar products rather than stopping prescribed treatment without guidance. Seek advice early during an infection, drink fluids as directed, and keep a personal list of known triggers.

A blood test can support diagnosis, although timing matters because results may be harder to interpret during or soon after an episode. Family members may be offered assessment when clinically appropriate.

Get urgent medical help for sudden dark urine, marked pale skin, yellow eyes, severe weakness, dizziness, fast breathing or fainting, especially after an infection or new medicine. Newborns with worsening jaundice or poor feeding also need immediate assessment.

Ask which medicines and foods to avoid, whether relatives should be tested, how to recognise haemolysis, and when repeat testing is useful. Request written trigger information to share with other healthcare professionals.