{"id":1073,"date":"2024-03-13T12:11:51","date_gmt":"2024-03-13T12:11:51","guid":{"rendered":"https:\/\/sites.exeter.ac.uk\/ironoverload\/?page_id=1073"},"modified":"2024-03-13T12:11:53","modified_gmt":"2024-03-13T12:11:53","slug":"c282y-heterozygotes","status":"publish","type":"page","link":"https:\/\/sites.exeter.ac.uk\/ironoverload\/patient-reports\/c282y-heterozygotes\/","title":{"rendered":"C282Y heterozygotes"},"content":{"rendered":"\n

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

\n
Based on your genotype, you are not likely at increased risk of haemochromatosis<\/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 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 0.4% of UK Biobank males with one copy 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

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

Risk of disease\/mortality – <\/strong>In our study of mortality and disease risk to age 80 in UK Biobank, males with one copy 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

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

Haemochromatosis<\/strong> – We estimated that 0.3% of UK Biobank females with one copy 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

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

Risk of disease\/mortality – <\/strong>In our study of mortality and disease risk to age 80 in UK Biobank, females with one copy 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

Because you have one copy of the HFE<\/em> C282Y gene variant, it is not likely you will develop haemochromatosis; therefore, if you experience symptoms, it is unlikely related 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