GENETIC HAEMOCHROMOTOSIS

€120

HFE Gene Variants: Key Markers for Hereditary Haemochromatosis (Iron Overload Disorder)

The HFE gene regulates iron absorption by controlling hepcidin, the hormone that manages iron levels in the body. Mutations in this gene can lead to hereditary haemochromatosis (HH), a condition where too much iron is absorbed from food, leading to iron overload in organs like the liver, heart, and pancreas.

HFE Gene Variants:

  1. HFE C282Y (rs1800562)

    • Most common mutation associated with hereditary haemochromatosis (HH).

    • Homozygous (C282Y/C282Y): High risk of developing iron overload (especially in men).

    • Heterozygous (C282Y + H63D/S65C): Moderate risk but rarely causes severe disease.

    • Affects hepcidin function, leading to increased iron absorption.

  2. HFE H63D (rs1799945)

    • Less severe than C282Y, but can contribute to iron overload when combined with C282Y.

    • Homozygous (H63D/H63D): Slightly increased iron absorption, but usually no major health issues.

    • Heterozygous (H63D + C282Y): Increased risk of haemochromatosis but lower than C282Y/C282Y.

  3. HFE S65C (rs1800730)

    • Rare variant with mild effects on iron metabolism.

    • Homozygous (S65C/S65C): Rare and unlikely to cause haemochromatosis.

    • Heterozygous (S65C + C282Y): Slightly increased risk of iron overload but less severe than C282Y/H63D.

Key Takeaways

✅ C282Y is the most clinically significant mutation for hereditary haemochromatosis.
✅ H63D and S65C have a lower impact but may contribute when combined with C282Y.
✅ Testing for these variants can help assess iron overload risk and guide dietary & medical decisions.