A 48-year-old man with hereditary haemochromatosis (HFE C282Y homozygous) has serum ferritin 1840 ng/mL and transferrin saturation 72%. He has no symptoms and liver biopsy shows grade 2 fibrosis (hepatic iron index 4.8). What is the cornerstone of treatment and frequency of monitoring phlebotomy?
- A Deferasirox 20 mg/kg/day orally
- B Weekly therapeutic phlebotomy (450–500 mL) until ferritin is 50–100 ng/mL, then every 3–4 months maintenance ✓
- C Monthly phlebotomy indefinitely regardless of ferritin level
- D Dietary iron restriction plus vitamin C avoidance alone
Explanation
Therapeutic phlebotomy remains the cornerstone of hereditary haemochromatosis treatment. Each 450–500 mL phlebotomy removes approximately 250 mg iron. Weekly phlebotomy is continued until serum ferritin drops to 50–100 ng/mL (depletion phase, typically 1–2 years). Maintenance phlebotomy every 3–4 months then sustains target ferritin. Iron chelators (deferasirox, deferoxamine) are reserved for patients who cannot tolerate phlebotomy. Dietary restriction alone is insufficient given the magnitude of iron overload. Vitamin C avoidance during chelation is relevant but not a primary treatment.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
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