G6PD Deficiency: Symptoms, Causes, Treatment

Many affected people have no symptoms between episodes. Enzyme deficiency and trigger responses vary. Diagnosis does not imply persistent anemia or a need for daily treatment in everyone.

Related reading: PKU: a different inherited condition identified by screening.

Pallor, jaundice, fatigue, rapid heartbeat, breathlessness or dark urine may follow infection or a trigger. Newborn jaundice can occur without a recognized exposure.

A change in the G6PD gene affects an enzyme protecting red cells from oxidative stress. Inheritance is X-linked, but females can also be affected rather than always being symptom-free carriers.

G6PD deficiency is more common in some ancestries, including Mediterranean and Middle Eastern populations, but can affect anyone. Family history guides testing and does not replace enzyme measurement and clinical assessment.

Testing measures enzyme activity with blood counts and hemolysis investigations as appropriate. Results during an episode or after transfusion can be misleading; the clinician decides whether testing should be repeated after recovery.

Trigger exposure is addressed with urgent clinical advice, and infection and hemolysis are treated according to severity. Hospital care or transfusion may be needed. Iron is not automatic treatment without proven deficiency; do not self-select drugs from internet lists.

Severe hemolysis can cause acute anemia and kidney complications. Untreated severe newborn jaundice may damage the brain. Recognizing triggers and obtaining early care reduce these risks.

Tell every clinician and pharmacist before using medicines or supplements. Avoid fava beans and established triggers according to your care advice. Check the specific medicine and dose rather than assuming all antibiotics or all legumes are prohibited.