What G6PD deficiency is
Glucose-6-phosphate dehydrogenase, or G6PD, is an enzyme that protects red blood cells from oxidative stress. When it is deficient, red cells can break down suddenly, causing anaemia and jaundice. The gene is on the X chromosome, so affected males are more often symptomatic, while females can be carriers or have variable deficiency.
Many people never have an episode and are diagnosed only through a blood test. Others present with dark urine, yellow eyes, tiredness and back or abdominal pain after a trigger. Newborns may develop prolonged jaundice, which needs urgent paediatric assessment.
Related: Haematology → · Dr. Sachita Baniya profile → · All conditions →
Triggers of haemolysis
Common triggers include infection, fava beans, naphthalene mothballs and certain medicines such as some antimalarials, sulfonamide antibiotics, dapsone, nitrofurantoin and high-dose aspirin. Not every person reacts to every trigger, but it is safer to check before starting a new medicine.
The response is individual. A person may tolerate a small exposure and react severely to the same exposure during infection. The prevention plan should list medicines to avoid and provide clear advice on what to do if dark urine or jaundice develops.
| Trigger | Effect | Advice |
|---|---|---|
| Fava beans | Oxidative haemolysis in susceptible people | Avoid if you have had a reaction |
| Naphthalene mothballs | Haemolysis, especially in children | Remove from the home |
| Some antibiotics and antimalarials | Drug-induced haemolysis | Check the G6PD list before prescribing |
| Infection or fever | Can trigger haemolysis | Seek early treatment rather than waiting |
Diagnosis and long-term care
Diagnosis uses a G6PD enzyme assay. The test can be falsely normal during an acute haemolytic episode or shortly after a transfusion, so it may need to be repeated when the patient is stable. A blood count, reticulocyte count, bilirubin, LDH and blood film support the assessment.
Acute haemolysis needs urgent medical care, stopping the trigger and sometimes transfusion. Between episodes, most people need no regular treatment. They need a clear list of medicines and foods to avoid, vaccination and infection care, and genetic counselling if they are planning children. Iron should not be given blindly; iron deficiency and G6PD deficiency can coexist, but the diagnosis should be confirmed first.
Access and booking
Dr. Baniya consults at Kathmandu Neurology Clinic & Cognitive Center, Durbar Marg, and also practises at Kathmandu Cancer Center (KCC) Nepal, Civil Service Hospital, Kathmandu, and Advanced Care Hospital. Appointments are arranged at the Durbar Marg clinic or through the respective hospital or cancer centre. Bring all blood counts, blood film, marrow, flow cytometry and molecular reports.