If you are “H63d homozygous” it means that you have inherited 2 copies of the milder H63D variant, one from each of your biological parents. Most people with this result never develop symptoms or load iron. If you have normal iron levels, then routine monitoring of your iron is not recommended in the absence of any symptoms. If you have high iron and/or symptoms you may be referred to the hospital for further investigation.

Implications for people with this genetic variant

  • Iron overload is unlikely in people homozygous for the H63d gene alteration but can occur. People should contact their GP should they develop any symptoms of iron overload (What is genetic haemochromatosis? | Haemochromatosis UK).
  • When homozygosity of H63d is seen in association with raised iron or transferrin saturation, other factors are usually present (eg excess alcohol consumption, obesity).
  • This result neither confirms nor excludes Genetic Haemochromatosis.
  • In the majority of people homozygote for H63d, where iron levels in the patient have been normal (for example if the result were identified as a result of a family screening cascade test) regular iron monitoring would not be necessary.

Family members

  • Both of your biological parents and any children you have will all be carriers of the H63d variant. H63d is a milder variant and very rarely causes patients to iron load even when they have 2 copies of the variant (homozygous). Therefore, no testing is recommended for any of your relatives in the absence of any symptoms.
  • Testing for haemochromatosis should only be offered on clinical grounds and only when accompanied with symptoms of genetic haemochromatosis.
  • Children will only have a chance of compound heterozygosity if their other parent is a carrier of the C282y.
  • Children under 18 years and babies do not need to be offered testing.