Hereditary hemochromatosis is most commonly caused by a C282Y mutation in the HFE gene. A homozygous C282Y patient with ferritin 850 ng/mL and transferrin saturation 72% is asymptomatic. What is the target ferritin level during phlebotomy therapy?

• A Ferritin 50–100 ng/mL
• B Ferritin < 200 ng/mL
• C Ferritin < 50 ng/mL ✓
• D Ferritin normalisation to laboratory reference range (< 300 ng/mL)

Explanation

In hereditary hemochromatosis (HHC), therapeutic phlebotomy (venesection) is the primary treatment. The therapeutic target is serum ferritin < 50 ng/mL (some guidelines accept < 50–100 ng/mL) with transferrin saturation < 50%. Phlebotomy is typically performed weekly (450–500 mL per session removing approximately 250 mg iron) until ferritin reaches target, then maintenance every 3–4 months. This prevents and may partially reverse organ damage (liver fibrosis/cirrhosis, diabetes mellitus, cardiomyopathy, hypogonadism, arthropathy). Ferritin < 200 ng/mL is insufficient—depletion must be near-complete.

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

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