π§ͺ G6PD Deficiency: The Hemolytic Anemia Triggered by Stress
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red blood cellsβaffecting over 400 million people worldwide.
It causes hemolytic anemia in response to oxidative stress, and is a common vignette trigger in both Step 1 (enzymes, metabolism) and Step 2 (clinical diagnosis and management).
USMLE Tip: Think G6PD any time hemolysis follows infection, sulfa drugs, or fava beans.
𧬠Pathophysiology
G6PD is key in the pentose phosphate pathway, producing NADPH
NADPH maintains glutathione, which protects RBCs from oxidative damage
Without G6PD β β oxidative stress β RBC membrane damage β intravascular hemolysis
π₯ Common Triggers
| Trigger Type | Examples |
|---|---|
| Infections | Pneumonia, hepatitis, malaria |
| Drugs | Sulfonamides, dapsone, antimalarials, nitrofurantoin |
| Foods | Fava beans |
| Stress | DKA, hypoxia, surgery |
π§ͺ Lab Findings
| Test | Result |
|---|---|
| Hemoglobin | β |
| LDH | β |
| Haptoglobin | β |
| Reticulocyte count | β |
| Peripheral Smear | Bite cells, Heinz bodies |
| G6PD assay | β (not during acute crisis) |
π©Έ Peripheral Smear Findings
Heinz bodies β denatured hemoglobin (seen with supravital stain)
Bite cells β splenic macrophage removal of Heinz bodies
π Buzzwords for USMLE: "Back from vacation in Greece," "ate fava beans," "sudden jaundice after sulfa antibiotics."
π§ββοΈ Management
Avoid triggers (especially offending drugs)
Supportive care: hydration, oxygen
Rarely transfusion if severe
Genetic counseling in affected families
π Sample USMLE Vignette
A 24-year-old male of Mediterranean descent develops jaundice and dark urine after taking trimethoprim-sulfamethoxazole for a UTI. Blood smear shows bite cells. Whatβs the most likely diagnosis?
β Answer: G6PD deficiency
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π² Call to Action
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