A 45-year-old man with hereditary hemochromatosis (HFE C282Y homozygous) has serum ferritin 1800 µg/L and transferrin saturation 72%. He is asymptomatic with normal LFTs. What is the recommended treatment?

• A Desferrioxamine IV chelation for 12 months
• B Oral deferasirox without phlebotomy
• C Observation as he is asymptomatic with normal LFTs
• D Weekly therapeutic phlebotomy until ferritin 50–100 µg/L, then maintenance phlebotomy ✓

Explanation

Hereditary hemochromatosis with elevated ferritin and transferrin saturation requires treatment to prevent end-organ damage (cirrhosis, cardiomyopathy, diabetes, arthropathy). Therapeutic phlebotomy is first-line — weekly removal of 450–500 mL blood (containing 200–250 mg iron) until serum ferritin is 50–100 µg/L, then maintenance every 2–4 months. Desferrioxamine is reserved for iron overload when phlebotomy is contraindicated (e.g., anaemia). Deferasirox is an oral chelator for transfusional siderosis. Observation without treatment risks progressive iron accumulation and organ damage.

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

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Written and medically reviewed by the StethoPrep medical team.