A 52-year-old man with hereditary haemochromatosis (C282Y homozygous) presents with bronzed skin, diabetes, and cirrhosis. Serum ferritin is 4200 µg/L. He has no cardiac involvement. What is the treatment of choice?
- A Weekly therapeutic phlebotomy until ferritin 50–100 µg/L ✓
- B Deferoxamine subcutaneous infusion
- C Deferasirox oral chelation
- D Liver transplantation as first-line therapy
Correct answer: A. Weekly therapeutic phlebotomy until ferritin 50–100 µg/L
Explanation
Therapeutic phlebotomy (venesection, 450–500 mL weekly) is the primary treatment for hereditary haemochromatosis, reducing iron stores by removing approximately 250 mg iron per session. The target is ferritin 50–100 µg/L. Phlebotomy prevents progression of liver disease, cardiomyopathy, and endocrine dysfunction. Iron chelators (deferoxamine, deferasirox) are reserved for patients who cannot tolerate phlebotomy (e.g., anaemia). Liver transplantation addresses end-stage cirrhosis but does not correct the systemic iron overload driven by intestinal hyperabsorption.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
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