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