Etiology:
X-linked recessive disorder (more common in males)
Caused by mutations in the G6PD gene on the X chromosome
Triggered by oxidative stress from:
Infections
Fava beans (favism)
Certain drugs (sulfa drugs, primaquine, dapsone, nitrofurantoin)
- Pathogenesis:
G6PD is essential for the pentose phosphate pathway, which generates NADPH
NADPH is required to maintain glutathione, which protects RBCs from oxidative damage
Without G6PD, oxidative stress causes:
Hemoglobin denaturation → Heinz bodies
Membrane damage → Intravascular & extravascular hemolysis
Bite cells (macrophages remove Heinz bodies)
- Clinical Features:
Acute hemolytic anemia (onset after oxidative stress)
Dark-colored urine (due to hemoglobinuria)
Jaundice & scleral icterus
Back pain & abdominal pain (due to hemolysis)
Neonatal jaundice (in severe cases)
- Treatment:
Avoid triggers (e.g., fava beans, oxidative drugs)
Supportive care (hydration, oxygen)
Blood transfusions (in severe hemolysis)