A 50-year-old man presents with diabetes, bronze skin discolouration, hepatomegaly, and arthropathy of the metacarpophalangeal joints. Serum ferritin is 2800 ng/mL and transferrin saturation is 72%. HFE gene analysis shows C282Y homozygosity. The most effective long-term treatment to prevent progression to cirrhosis is:

• A Desferrioxamine (deferoxamine) infusion therapy
• B Low-iron diet and vitamin C avoidance alone
• C Regular phlebotomy (venesection) to maintain serum ferritin < 50 ng/mL ✓
• D Liver transplantation as first-line management

Explanation

Hereditary haemochromatosis (HFE-related, C282Y homozygous) is treated with therapeutic phlebotomy — 1 unit (450–500 mL) blood removed weekly or fortnightly until ferritin <50 ng/mL, then maintenance phlebotomy every 3–4 months. This remains the safest, most effective, and cost-efficient iron depletion strategy. Desferrioxamine is used in iron-overload states where phlebotomy is not feasible (e.g., anaemia). Transplantation corrects liver failure but not the genetic defect.

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

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.