A 50-year-old man of Northern European descent is found to have transferrin saturation of 68%, serum ferritin 1400 ng/mL, and elevated LFTs. Liver biopsy shows iron deposition predominantly in periportal hepatocytes. Genetic testing reveals C282Y homozygosity. What is the most important initial treatment?
- A Deferoxamine subcutaneous infusion
- B Deferasirox oral chelation therapy
- C Weekly phlebotomy until ferritin <50 ng/mL, then maintenance phlebotomy ✓
- D Low iron diet as the sole intervention
Correct answer: C. Weekly phlebotomy until ferritin <50 ng/mL, then maintenance phlebotomy
Explanation
Hereditary hemochromatosis (HFE gene, C282Y homozygosity) is treated with therapeutic phlebotomy — each unit removes ~250 mg of iron. Weekly phlebotomy continues until ferritin falls to 50–100 ng/mL and transferrin saturation <50%, then maintenance phlebotomy 2–4 times per year. This prevents progression to cirrhosis, hepatocellular carcinoma, cardiomyopathy, and diabetes. Phlebotomy is preferred over chelation therapy in hemochromatosis (chelation reserved for cases with anemia precluding phlebotomy). Diet restriction alone is inadequate.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
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Written and medically reviewed by the StethoPrep medical team.