A 48-year-old man with hereditary haemochromatosis (HFE C282Y homozygous) has serum ferritin 2,400 ng/mL, transferrin saturation 82%, and liver biopsy showing hepatic iron index of 2.1 with bridging fibrosis. What is the FIRST-LINE treatment?

• A Deferasirox oral chelation therapy
• B Therapeutic phlebotomy (venesection) weekly until ferritin < 50 ng/mL ✓
• C Low-iron diet alone
• D Deferoxamine subcutaneous infusion

Explanation

Therapeutic phlebotomy is the cornerstone treatment for hereditary haemochromatosis — each 500 mL of blood removes ~250 mg iron. Weekly phlebotomy is continued until ferritin falls to <50 ng/mL (or <20-50 per institution), then maintenance phlebotomy every 3-4 months. Deferasirox and deferoxamine chelators are reserved for patients who cannot tolerate phlebotomy (e.g., severe anaemia, cardiac contraindications). Diet restriction alone is insufficient for iron removal.

Reference: Harrison's Principles of Internal Medicine, 21st ed.

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Written and medically reviewed by the StethoPrep medical team.