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Toddler iron deficiency — MCCQE Part 1 MCQ

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EasyFatigueToddler iron deficiencyMCCQE Part 1

A patient with fatigue and MCP arthralgia is homozygous for HFE C282Y. Transferrin saturation is 74%, ferritin is 920 µg/L and hemoglobin is 152 g/L. There is no hemodynamic instability or transfusion-dependent anemia. What is the best disease-modifying treatment?

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Correct answer: DBegin serial therapeutic phlebotomy with hemoglobin and ferritin monitoring

This genotype plus markedly increased transferrin saturation and ferritin establishes HFE haemochromatosis with iron overload. Serial therapeutic phlebotomy is first-line because it safely removes stored iron when hemoglobin and hemodynamics permit. Check hemoglobin before procedures and ferritin periodically; after induction, less frequent maintenance phlebotomy generally keeps ferritin around 50 to 100 µg/L without causing anemia. Assess alcohol exposure and liver fibrosis risk and screen for relevant end-organ complications. Diet alone cannot remove the existing burden, iron supplements and transfusions worsen it, and chelation is generally reserved for patients in whom phlebotomy is infeasible or unsafe.

Reference: Contemporary haemochromatosis management review: https://pmc.ncbi.nlm.nih.gov/articles/PMC11665571/