{"id":243,"date":"2023-05-23T19:31:43","date_gmt":"2023-05-23T19:31:43","guid":{"rendered":"https:\/\/sites.exeter.ac.uk\/ironoverload\/?page_id=243"},"modified":"2024-03-13T12:30:15","modified_gmt":"2024-03-13T12:30:15","slug":"c282y-h63d-compound-heterozygotes-v1","status":"publish","type":"page","link":"https:\/\/sites.exeter.ac.uk\/ironoverload\/patient-reports\/c282y-h63d-compound-heterozygotes-v1\/","title":{"rendered":"C282Y-H63D compound heterozygotes (v1)"},"content":{"rendered":"\n

You have one of each copy of the HFE <\/em>C282Y and H63D genetic variants.<\/p>\n\n\n\n

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Based on your genotype, you have a small increase in risk of haemochromatosis, compared to the general population.<\/a><\/div>\n<\/div>\n\n\n\n

* Estimates are from our community sample of UK Biobank European descent individuals [1]<\/a>. People tested because of a health problem or with high iron levels may have different risk. See below Technical Details<\/a> section for more information, and the Other Risk Factors<\/a> page for risk modifiers. Page updated 25th May 2023.<\/p>\n\n\n\n

Males<\/h2>\n\n\n\n

Males are known to have higher risk of iron overload disease compared to females.<\/p>\n\n\n\n

Haemochromatosis<\/strong> – 1.8% of men with one of each HFE <\/em>gene variant (C282Y and H63D) were diagnosed with haemochromatosis. In comparison, only 0.06% of men without a faulty HFE <\/em>gene were diagnosed. Data from the UK Biobank participants linked medical records up to Jan 2018 [1]<\/a>.<\/p>\n\n\n

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1.8 in 100 haemochromatosis diagnoses in C282Y-H63D compound heterozygous males vs. 0.06 in 100 in the general population [1]<\/a>.<\/figcaption><\/figure><\/div>\n\n\n

Risk of disease\/mortality – <\/strong>In our study of mortality and disease risk to age 75 in UK Biobank, males with one of each copy of the HFE <\/em>C282Y and H63D genetic variants did not have increased risk of death or liver complications (including liver disease and liver cancer).<\/p>\n\n\n\n

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Females<\/h2>\n\n\n\n

Haemochromatosis<\/strong> – 0.61% of women with one of each copy of the HFE <\/em>C282Y and H63D gene variant were diagnosed with iron overload-related haemochromatosis. In comparison, only 0.02% of women without a faulty HFE <\/em>gene were diagnosed.<\/p>\n\n\n

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0.61 in 100 haemochromatosis diagnoses in C282Y-H63D compound heterozygous females vs. 0.02 in 100 in the general population [1]<\/a>.<\/figcaption><\/figure><\/div>\n\n\n

Risk of disease\/mortality – <\/strong>In our study of mortality and disease risk to age 75 in UK Biobank, females with one of each copy of the HFE <\/em>C282Y and H63D genetic variants did not have increased risk of death or liver complications (including liver disease and liver cancer).<\/p>\n\n\n\n

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What should I do?<\/h2>\n\n\n\n

Because you have one copy of each of the HFE<\/em> C282Y and H63D gene variants, it is unlikely to be haemochromatosis. If you experience symptoms they are not likely due to haemochromatosis, but you should contact your GP if they persist or become more severe. See below for guidance:<\/p>\n\n\n\n

The UK NHS website for haemochromatosis (link<\/a>) says to speak to your GP about getting a test if:<\/p>\n\n\n\n