What should you know about G6PD deficiency types?

G6PD deficiency is inherited and results from reduced activity of an enzyme that protects red blood cells. The laboratory category is based on enzyme activity and clinical behaviour, not on a person’s symptoms alone. Some variants cause ongoing vulnerability, while others mainly become apparent during infection or exposure to a trigger.

During haemolysis, red blood cells are removed faster than the body replaces them. A person may notice tiredness, pale skin, yellowing, breathlessness, a fast heartbeat or dark urine. Newborns can develop jaundice and need prompt assessment. The same family can include people with different symptoms, so one relative’s experience does not predict another’s.

Ask for the enzyme activity result and the name of the suspected variant if genetic testing was performed. Keep the diagnosis visible in your medical records and mention it before medicines, procedures or travel. A blood test can help assess blood counts and evidence of haemolysis when symptoms occur. Testing may need repeating or specialist interpretation if it was done during an acute episode.

Parents should tell the child’s healthcare team about a known family history. Relatives can ask whether testing is appropriate, particularly before a medicine that may be relevant to G6PD deficiency is prescribed.

Get urgent help for dark urine, rapidly worsening paleness, yellow eyes, severe weakness, fainting, confusion, chest discomfort or difficulty breathing. In a baby, urgent assessment is needed for marked jaundice, poor feeding, unusual sleepiness or reduced responsiveness. These signs may indicate haemolysis or anaemia and should not be judged by the named type alone.

How much enzyme activity was measured? Does my result suggest trigger-related episodes or ongoing risk? Which symptoms should prompt urgent care? Should my relatives or children have a blood test?