A 50-year-old man with hereditary haemochromatosis (HFE gene C282Y homozygous) has ferritin 2400 ng/mL, transferrin saturation 78%, and serum ALT 68 IU/L. Liver MRI shows T2* signal loss consistent with hepatic iron overload. He is asymptomatic. The BEST initial treatment is:
- A Weekly phlebotomy until ferritin 50–100 ng/mL and transferrin saturation <30% ✓
- B Deferasirox oral chelation therapy
- C Liver biopsy first before initiating treatment
- D Dietary iron restriction alone
Explanation
Therapeutic phlebotomy (venesection) remains the definitive first-line treatment for hereditary haemochromatosis with iron overload. Weekly phlebotomy of 450–500 mL blood (containing 200–250 mg iron) is continued until ferritin falls to 50–100 ng/mL and transferrin saturation <30%. Thereafter, maintenance phlebotomy every 2–4 months sustains normal iron levels. Liver biopsy is no longer routinely required for diagnosis when genetic testing confirms C282Y homozygosity with elevated iron indices. Oral chelators (deferasirox, desferrioxamine) are reserved for patients who cannot tolerate phlebotomy. Dietary restriction alone is insufficient for established iron overload.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
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Written and medically reviewed by the StethoPrep medical team.