G6PD Deficiency

Overview

G6PD deficiency is an inherited condition affecting an enzyme that protects red blood cells from damage. People with the deficiency are usually healthy day-to-day but can develop sudden red blood cell breakdown (haemolysis) when exposed to certain triggers.

Symptoms

Most people have no symptoms until exposed to a trigger. When haemolysis occurs: fatigue, pale skin, yellowing of the skin or eyes (jaundice), dark urine, and shortness of breath.

Risk Factors

G6PD deficiency is inherited and more common in people with African, Mediterranean, Middle Eastern, and Southeast Asian ancestry, again linked historically to malaria protection.

Common Blood Tests

A G6PD enzyme activity test confirms the diagnosis, ideally done when not in the middle of a haemolytic episode, as levels can appear falsely normal at that time.

Lifestyle Information

Avoiding known triggers is key — this includes certain medications (such as some antimalarials and antibiotics), fava beans, and mothballs (naphthalene). People with G6PD deficiency are usually given a list of substances to avoid.

When to seek medical advice

See a doctor if you know you have G6PD deficiency and need any new medication, to check it's safe — and seek prompt care if you notice sudden jaundice, dark urine, or fatigue after a possible trigger.

Sources