{"id":99,"date":"2023-05-22T09:23:23","date_gmt":"2023-05-22T09:23:23","guid":{"rendered":"https:\/\/sites.exeter.ac.uk\/ironoverload\/?page_id=99"},"modified":"2024-03-13T12:29:36","modified_gmt":"2024-03-13T12:29:36","slug":"c282y-homozygotes-v1","status":"publish","type":"page","link":"https:\/\/sites.exeter.ac.uk\/ironoverload\/patient-reports\/c282y-homozygotes-v1\/","title":{"rendered":"C282Y homozygotes (v1)"},"content":{"rendered":"\n

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

\n
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 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> – 25.3% of men in our study with two copies of the HFE<\/em> C282Y gene variant 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

\n
\"\"
25.3 in 100 haemochromatosis diagnoses in C282Y homozygous males vs. 0.06 in 100 in the general population [1]<\/a>.<\/figcaption><\/figure><\/div>\n\n\n

Mortality<\/strong> – We estimated that 19.5% of UK Biobank males with two copies of HFE<\/em> C282Y would die by age 75, compared to 15.1% of individuals with no faulty HFE<\/em> genes. <\/p>\n\n\n

\n
\"\"
19.5 in 100 deaths by age 75 in C282Y homozygous males vs. 15.1 in 100 in the general population [1]<\/a>.<\/figcaption><\/figure><\/div>\n\n\n

Liver cancer<\/strong> – Male C282Y homozygotes were more likely to be diagnosed with liver cancer by age 75 than men without faulty HFE<\/em> variants (7.2% vs. 0.6%).<\/p>\n\n\n\n

Liver disease<\/strong> \u2013 22.7% of male C282Y homozygotes were diagnosed with liver disease (non-cancer related) by age 75, compared to only 10.2% of men without either HFE<\/em> variant. <\/p>\n\n\n\n

\n\n\n\n

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

Haemochromatosis<\/strong> – 12.5% of women with two copies of the HFE<\/em> C282Y 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

\n
\"\"
12.5 in 100 haemochromatosis diagnoses in C282Y homozygous 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 two copies of the HFE<\/em> C282Y gene variant did not have increased risk of death or liver complications (including liver disease and liver cancer). <\/p>\n\n\n\n

\n\n\n\n

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