Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

Study Notes

G6PD is an enzyme that helps protect red blood cells from damage and premature destruction.
It generates reduced NADP (NADPH), which is essential in protecting RBCs from oxidative stress.

G6PD deficiency is an X-linked recessive disorder, affecting males more frequently than females.
Females can be carriers and may be symptomatic if they are homozygous or if inactivation of their normal X chromosome occurs.
It is the most common enzyme deficiency in humans, affecting approximately 400 million people worldwide, with a high prevalence in persons of African, Asian, and Mediterranean descent.

Most people with G6PD deficiency do not exhibit symptoms unless triggered by certain factors.
Symptoms may include:
- Dark-colored urine
- Yellow skin, eyes, or tongue
- Pale skin
- Fast heart rate and breathlessness
- Low back pain
- Fever
Newborn babies with G6PD deficiency may have jaundice.
Oral manifestations include:
- Pale discoloration of the oral mucosa
- Increased susceptibility to infections
- Bleeding spontaneously or on slightest provocation

Diagnosis is made through a blood test, which can also rule out other causes of symptoms.
Family members of a diagnosed individual should be tested.
Most people do not require treatment and can manage their condition by avoiding triggers such as fava beans.
If anaemia develops, it may need to be treated with a blood transfusion.
Babies with jaundice are usually treated with phototherapy (light therapy).

Pre-operative assessment is essential to uncover any G6PD deficiency, which impacts medication choices and treatment plans.
Stress reduction techniques are recommended to minimize anxiety and stress.
Medical awareness is necessary to avoid high-risk medications that can trigger hemolysis in G6PD-deficient patients.