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HFE p.C282Y pure hemoglobin is the main disease-causing variant that causes hereditary hemoglobinosis.
risk of liver cancer and death increased in patients clinically diagnosed with hereditary hemochromatic depression, but for most undiagnosed p. The risk of primary liver cancer in C282Y pure co-carriers is not clear.
recently examined the relationship between HFE mutation status and morbidity and mortality of primary liver cancer.
researchers looked at data from 451,186 UK Biobank participants aged 40-70, analyzed participants' HFE p.C282Y and p.H63D genotypes, and identified participants' primary liver cancer and death from any cause through hospitalization records, national cancer registries, and death certificates.
of the study was the relationship between HFE variation and morbidity and mortality of primary liver cancer.
age of participants was 56.8 years, 54.3 per cent for women and 8.9 years for follow-up.
in 1294 cases of male p. Of the C282Y pure co-carriers, 21 had liver malignancies, 10 of which were participants who had not been diagnosed with haemorrhagic pigmentation at the time of the baseline examination.
compared to men without HFE variants, the risk of liver malignancies (risk ratio, 10.5) and all-cause mortality (n=88; HR, 1.2) in men with p.C282Y pure ensencs increased significantly.
male p. The risk of primary liver malignancies was 7.2% at age 75 for C282Y pure co-carriers, compared with 0.6% for non-mutated men and 19.5% and 15.1% respectively.
in women p. There were 3 cases of liver malignancy and 60 deaths in C282Y pure co-carriers (n=1596), but female pure co-thy-son carriers had a lower correlation with liver malignancies (HR, 2.1) and death (HR, 1.2).
study found that male HFE p.C282Y pure co-carriers had a significantly increased risk of developing liver malignancies and death, compared to men, female pure-son carriers had a lower risk.
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