G6PD Deficiency: Understanding its Role in Red Blood Cells

Study Notes

G6PD stands for Glucose-6-Phosphate Dehydrogenase, an enzyme that helps protect red blood cells from damage and premature destruction.
G6PD is a rate-limiting enzyme of the pentose phosphate pathway, generating reduced NADP (NADPH), which is essential in protecting RBCs from oxidative stress.

G6PD deficiency is an X-linked recessive disorder, affecting males and making females carriers.
Females can be symptomatic if they are homozygous or if inactivation of their normal X chromosome occurs.
Epidemiology: G6PD deficiency is the most common enzyme deficiency in humans, affecting about 400 million people worldwide, with a high prevalence in persons of African, Asian, and Mediterranean descent.
G6PD deficiency confers partial protection against malaria.

Diagnosed with a blood test, which can also rule out other causes of symptoms.
Most people do not need treatment, but can manage their condition by avoiding triggers (e.g., fava beans).
If anaemia develops, it may need to be treated with blood transfusion.
Babies with jaundice are treated with phototherapy (light therapy).

Pre-operative assessment: Gathering a thorough medical history is essential to uncover any G6PD deficiency.
Stress reduction: Reducing anxiety and stress is recommended to prevent hemolytic episodes.
Medical awareness: Avoiding high-risk medication (e.g., anti-inflammatory drugs) and using low-risk medication is necessary.