A 48-year-old man is found to have transferrin saturation 62% and serum ferritin 1840 ng/mL. He has mild hepatomegaly and elevated ALT 78 U/L. Genetic testing confirms homozygous C282Y mutation in HFE gene. Liver biopsy shows grade 3 hepatic iron deposition with early fibrosis. Which is the first-line treatment?
- A Oral deferasirox (chelation therapy)
- B Weekly therapeutic phlebotomy until ferritin <50 µg/L and transferrin saturation <30% ✓
- C Dietary restriction of iron-rich foods
- D Deferoxamine subcutaneous infusion
Correct answer: B. Weekly therapeutic phlebotomy until ferritin <50 µg/L and transferrin saturation <30%
Explanation
Hereditary haemochromatosis (HH) caused by HFE C282Y homozygosity is treated with therapeutic phlebotomy as first-line management. Each 450–500 mL phlebotomy removes approximately 200–250 mg of iron. Weekly phlebotomy continues until the target of serum ferritin <50 µg/L and transferrin saturation <30% is achieved, which may take 1–3 years depending on iron burden. Maintenance phlebotomy every 3–4 months is then continued lifelong. Chelation therapy (deferasirox, deferoxamine) is reserved for patients who cannot tolerate phlebotomy (e.g., severe anaemia).
Reference: Harrison's Principles of Internal Medicine, 21st ed.
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