Haemochromatosis: genetic iron overload disease

Haemochromatosis: genetic iron overload disease

Summary for patients

No copies of C282Y of H63D

You have no copies of the HFE C282Y or H63D genetic variants.

* Estimates are from our community sample of UK Biobank European descent individuals [1]. People tested because of a health problem or with high iron levels may have different risk. See below Technical Details section for more information, and the Other Risk Factors page for risk modifiers. Page updated 12th February 2024.

Haemochromatosis

We estimated that 0.2% and 0.1% of UK Biobank males and females with no copies of HFE C282Y or H63D would be diagnosed with haemochromatosis by age 80, respectively.

0.2 in 100 diagnoses of haemochromatosis by age 80 in non carriers of HFE C282Y and H63D males [1].
0.1 in 100 diagnoses of haemochromatosis by age 80 in non carriers of HFE C282Y and H63D females [1].

Technical details

1. Genetic differences among different populations can influence the risk of disease prevalence and rates of mortality. Therefore, the generalisability of our study findings may be limited to individuals of European descent.

2. Early follow-up years are liable to be impacted by healthy volunteer bias in the UK Biobank. However, the present study’s findings reported incident outcomes with sufficient follow-up time (median of 13.3 years), thus, limiting the influence of a healthy volunteer bias.

3. The current study does not take into account other genotypes that are known to influence iron metabolism. Therefore, the potential implication of such modifiable effects on iron could have affected any associated risks of disease or mortality. However, further research is required to determine the extent of such effects.


References

[1] Mitchell R Lucas, Janice L Atkins, Luke C Pilling, Jeremy D Shearman, David Melzer. HFE genotypes, haemochromatosis diagnosis and clinical outcomes at age 80: a prospective cohort study in the UK Biobank. BMJ Open. 2024; doi:10.1136/bmjopen-2023-081926

[2] UK NHS Haemochromatosis overview – https://www.nhs.uk/conditions/haemochromatosis/