What should you know about the genetics of G6PD deficiency?

The G6PD gene provides instructions for an enzyme that helps red blood cells handle oxidative stress. When its activity is reduced, infection, some medicines, or particular foods may cause red blood cells to break down faster than the body replaces them. This episode is called haemolysis.

Because the gene is on the X chromosome, inheritance can affect people differently depending on their chromosomes. A person may have symptoms in childhood or only notice the condition after a trigger. The pattern in a family can be useful, but an absent family history does not rule it out.

Tell clinicians and pharmacists that you have, or may have, G6PD deficiency before starting a medicine. Keep a personal record of medicines and triggers that have caused problems, and do not stop prescribed treatment without advice. A blood test can support diagnosis, although timing after an episode can affect interpretation.

During illness, follow the treatment plan and drink enough fluid unless a clinician has given you a fluid restriction. Avoid known triggers advised for your specific result. Family members may wish to discuss testing, especially before medicines or pregnancy-related care.

Seek urgent medical help if you develop dark urine, pale skin, yellowing of the eyes, unusual tiredness, breathlessness, a fast heartbeat, or faintness after an illness, medicine, or food exposure. These signs can indicate rapid red blood cell breakdown or anaemia.

Ask which triggers and medicines apply to your result, whether relatives should be tested, and how to recognise an episode early. You can also ask when repeat testing is useful and what information to carry for emergency care.