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Heterozygous for p.H63D

Heterozygous for p.H63D

Implication for patients

  • There is no predictable risk of iron overload in people with one copy of the H63D gene alteration, and without the C282Y gene alteration.
  • In Britain around 1 in 7 people are carriers of the H63D variant.
  • This genotype is very unlikely to cause a clinical presentation of HFE-related Hereditary Haemochromatosis or iron overload.

Action

  • In the presence of significant raised indices refer to a gastroenterologist or haematologist to eliminate other causes for iron overload.
  • The genetic test does not need to be repeated when iron studies are requested in the future. Put on request form “genotype known”.
  • Information with the explanation about Haemochromatosis can be given to the patient.

Implications for relatives

  • Testing of closed relatives only recommended if relatives present with  clinical problems.
  • Partner testing: Offer testing to the father/mother of this patient’s children ( spouse or partner) and mention relationship on request form.
  • Testing of Babies and children not recommended.

More information

If you would like to more information about Genetic Haemochromatosis and testing, please do not hesitate to contact:

Last Updated: 04 January 2018