{"id":1071,"date":"2024-03-13T12:25:18","date_gmt":"2024-03-13T12:25:18","guid":{"rendered":"https:\/\/sites.exeter.ac.uk\/ironoverload\/?page_id=1071"},"modified":"2024-03-13T12:25:19","modified_gmt":"2024-03-13T12:25:19","slug":"c282y-homozygotes-2","status":"publish","type":"page","link":"https:\/\/sites.exeter.ac.uk\/ironoverload\/patient-reports\/c282y-homozygotes-2\/","title":{"rendered":"C282Y homozygotes"},"content":{"rendered":"\n

You have two copies of the HFE <\/em>C282Y genetic variant.<\/p>\n\n\n\n

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Based on your genotype, you have higher risk of haemochromatosis than 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 Risk Modifiers<\/a> page. Page updated 12th February 2024.<\/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> – We estimated that 56.4% of UK Biobank males with two copies of HFE<\/em> C282Y would be diagnosed with haemochromatosis by age 80, compared to 0.2% of individuals with no faulty HFE<\/em> genes.<\/p>\n\n\n\n

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56.4 in 100 diagnoses of haemochromatosis by age 80 in C282Y homozygous males vs. 0.2 in 100 in the general population [1]<\/a>.<\/figcaption><\/figure>\n\n\n\n

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Mortality<\/strong> – We estimated that 33.1% of UK Biobank males with two copies of HFE<\/em> C282Y would die by age 80, compared to 25.4% of individuals with no faulty HFE<\/em> genes. <\/p>\n\n\n\n

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33.1 in 100 deaths by age 80 in C282Y homozygous males vs. 25.4 in 100 in the general population [1]<\/a>.<\/figcaption><\/figure>\n\n\n\n

Liver cancer<\/strong> – Male C282Y homozygotes were more likely to be diagnosed with liver cancer by age 80 than men without faulty HFE<\/em> variants (5.5% vs. 0.8%).<\/p>\n\n\n\n

Liver disease<\/strong> \u2013 20.3% of male C282Y homozygotes were diagnosed with liver disease (non-cancer related) by age 80, compared to only 8.3% of men without either HFE<\/em> variants. <\/p>\n\n\n\n

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

Haemochromatosis<\/strong> – We estimated that 40.5% of UK Biobank females with two copies of HFE<\/em> C282Y would be diagnosed with haemochromatosis by age 80, compared to 0.1% of individuals with no faulty HFE<\/em> genes <\/p>\n\n\n\n

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40.5 in 100 diagnoses of haemochromatosis by age 80 in C282Y homozygous females vs. 0.1 in 100 in the general population [1]<\/a>.<\/figcaption><\/figure>\n\n\n\n

Liver disease<\/strong><\/strong> \u2013 <\/strong>8.9% of female C282Y homozygotes were diagnosed with liver disease (non-cancer related) by age 80, compared to only 6.8% of women without either HFE<\/em> variants. <\/p>\n\n\n\n

Risk of disease\/mortality \u2013 <\/strong>In our study of mortality and disease risk to age 80 in UK Biobank, females with two copies of the HFE<\/em>  C282Y gene variant did not have increased risk of death or liver cancer.<\/p>\n\n\n\n

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What should I do?<\/h2>\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