Ano ang G6PD deficiency? What it means

Many affected people feel well between episodes. When rapid red-cell breakdown, called haemolysis, occurs, it can cause tiredness, pale skin, yellowing of the eyes or skin, shortness of breath, a fast heartbeat, back or abdominal discomfort, and dark urine.

The G6PD enzyme helps red blood cells handle oxidative stress. A gene change reduces this protection, and exposure to a trigger can make the cells rupture earlier than expected. The resulting anaemia can range from mild to severe depending on the trigger and the person's enzyme activity.

Triggers are not identical for everyone, but they can include certain prescription or non-prescription medicines, fava beans, naphthalene mothballs, and infections. A diagnosis is made with a blood test; testing may sometimes need repeating after a haemolytic episode because newly produced red cells can affect the result.

Keep a clinician-approved list of substances to avoid and show it to doctors, dentists, and pharmacists before starting a medicine. Check active ingredients rather than relying only on a brand name, and keep mothballs away from the home environment.

If symptoms begin after a possible trigger, stop taking a newly started non-essential product and obtain medical advice promptly; do not stop an essential prescribed medicine without urgent guidance. Treatment focuses on removing the trigger, treating an infection, supporting hydration, and managing anaemia according to its severity.

Seek urgent care for dark brown or cola-coloured urine, new yellowing, pronounced paleness, breathing difficulty, fainting, confusion, chest discomfort, extreme weakness, or a fast heartbeat with illness. A baby who is unusually sleepy, feeding poorly, or becoming yellow also needs prompt assessment.

Tell the healthcare team about known or suspected G6PD deficiency and any recent medicine, food, chemical, or infection exposure. Bring the product packet or medicine list when available.

Ask how the diagnosis was confirmed, which triggers are relevant locally, how to check a new medicine, what an episode might look like, and whether relatives should discuss testing. Parents can also ask what to tell schools or caregivers and how jaundice should be handled in a newborn.