What should you know about genetic testing for G6PD deficiency?

G6PD is an enzyme that helps red blood cells handle oxidative stress. An inherited reduction in its activity can make cells break down after certain medicines, infections or foods. Some people have no symptoms until a trigger occurs; others develop episodes of haemolytic anaemia. Genetic testing examines the G6PD gene, while a Blood Test can assess blood-cell effects and haemoglobin. Results should be interpreted with sex, family history, recent illness and treatment history in mind.

Share the report with a doctor before starting new medicines, including treatments prescribed elsewhere. Keep a record of previous reactions and tell close relatives if a clinician recommends family assessment. Ask which medicines, supplements and foods are relevant to your result; do not stop an essential medicine without medical advice. During illness, follow the plan given by your clinician and keep testing records available.

Seek prompt medical care for sudden dark urine, pale skin, yellowing of the eyes, unusual tiredness, fast heartbeat, breathlessness or fainting, especially after an infection or new medicine. Severe breathlessness, collapse or confusion is an emergency. These symptoms can have other causes, so assessment should not wait for a genetic result.

What does my variant mean for enzyme activity? Do I need a Blood Test now or after recovery from illness? Which medicines should be flagged in my records? Should relatives be assessed, and what symptoms should prompt urgent review?