Understanding Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)

Glucose-6-Phosphate Dehydrogenase (G6PD) is an enzyme that helps red blood cells function properly. A deficiency in this enzyme can lead to a condition known as G6PD deficiency affecting millions worldwide.

What is G6PD Deficiency?

G6PD deficiency is a genetic disorder that affects the production of the G6PD enzyme. This enzyme helps protect red blood cells from damage caused by oxidants, which are substances that can harm cells.

Symptoms

– Jaundice (yellowing of skin and eyes)

– Fatigue

– Shortness of breath

– Pale or yellowish skin

– Dark urine

– Abdominal pain

Triggers

– Certain medications (e.g., antimalarial drugs, antibiotics)

– Infections

– Foods high in oxidants (e.g., fava beans, mothballs)

– Stress

Complications

– Haemolytic anaemia (red blood cell destruction)

– Kidney damage

– Increased risk of infections

Diagnosis

– Blood tests to measure G6PD enzyme levels

– Genetic testing to identify mutations

Treatment and Management

– Avoiding triggers

– Medication management (e.g., avoiding certain antibiotics)

– Blood transfusions (in severe cases)

– Monitoring for complications

Newborn Screening

G6PD deficiency is often detected through newborn screening programs, allowing for early diagnosis and prevention of complications.

Living with G6PD Deficiency

While G6PD deficiency is a lifelong condition, understanding its management and avoiding triggers can help minimise symptoms and prevent complications. If you have G6PD deficiency, work closely with your healthcare provider to develop a personalised plan.