If you are a “C282y carrier”  it means that you have inherited a single copy of the C282y variant from one of your parents. This is sometimes called a heterozygous carrier. Carriers are not usually at risk of iron loading. If you have normal iron levels and no symptoms, you will not require any further follow-up. If you have symptoms, you may need to be referred to the hospital for further investigations.

Implications for people with this genetic variant

  • There is no predictable risk of iron overload in people with one copy of the C282y gene alteration and without the H63d gene alteration. However, this genotype is unlikely to cause a clinical presentation of iron overload.
  • In the presence of significant raised serum ferritin and transferrin saturation, you will need to be referred to a gastroenterologist or haematologist to eliminate other causes for iron overload.

Family members

  • At least one of your biological parents will be a carrier for C282y for genetic haemochromatosis, and there is a small chance (approximately 1 in 40, or 3%) that one of your parents could have genetic haemochromatosis.
  • Brothers and sisters have a 1 in 4 (25%) chance of being affected only if both parents are carriers.
  • Each of your siblings and any children you have are at a 1 in 2 (50%) chance of also being a carrier.
  • There is a small chance (1 in 40 or 3%) to your siblings and children of them having genetic haemochromatosis.
  • Carrier testing for first degree adult relatives can be considered.
  • There will be no immediate implication for children under the age of 18 years and babies thus testing is not recommended at this age.