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G6PD Deficiency — RACP Paediatrics MCQ

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ModerateHaematology & OncologyG6PD DeficiencyRACP Paediatrics

A 5-year-old boy of Mediterranean background develops jaundice and dark urine 48 hours after eating fava beans. His Hb has dropped from 120 to 65 g/L. Blood film shows bite cells and Heinz bodies. Reticulocytes are elevated. What is the diagnosis?

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Correct answer: B — G6PD deficiency

G6PD deficiency (X-linked): oxidative stress from fava beans, infections, or drugs triggers acute haemolytic crisis. Blood film shows bite cells and Heinz bodies (denatured haemoglobin). G6PD enzyme level may be falsely normal during acute haemolysis (due to reticulocytosis) and should be repeated 3 months later.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Haemolytic Anaemia