ArticleJournal of gastroenterology and hepatology2017
HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype-stratified cohort study of hemochromatosis in Australian women.
Article in Journal of gastroenterology and hepatology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Clinical practice guidelines on hemochromatosis: Asian Pacific Association for the Study of the Liver.Hepatology international · 2023Guideline
- The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland.Nature communications · 2026Article
- Comparisons of iron phenotypes and reports of menses, pregnancies, and live births in women withmedRxiv : the preprint server for health sciences · 2026Article
- Serum Ferritin in Women WithEJHaem · 2025Article
- Association ofGenetics in medicine open · 2025Article
- Sex similarities and divergences in systemic and muscle iron metabolism adaptations to extreme physical inactivity in rats.Journal of cachexia, sarcopenia and muscle · 2024Article
- Dry immersion rapidly disturbs iron metabolism in men and women: results from the VIVALDI studies.NPJ microgravity · 2024Article
- Toenail and serum levels as biomarkers of iron status in pre- and postmenopausal women: correlations and stability over eight-year follow-up.Scientific reports · 2024Article
- Using Mendelian Randomization to Study the Role of Iron in Health and Disease.International journal of molecular sciences · 2023Review
- C282Y/H63D Compound Heterozygosity Is a Low Penetrance Genotype for Iron Overload-related Disease.Journal of the Canadian Association of Gastroenterology · 2022Article
- Revisiting hemochromatosis: geneticAnnals of translational medicine · 2021Review
- Utility of hepatic or total body iron burden in the assessment of advanced hepatic fibrosis in HFE hemochromatosis.Scientific reports · 2019Article
Corrections and comments
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Authors and funding
14 authors at 8 institutions in 3 countries.
Funding
Abstract
BACKGROUND AND
aimWomen who are homozygous for the p.C282Y mutation in the HFE gene are at much lower risk of iron overload-related disease than p.C282Y homozygous men, presumably because of the iron-depleting effects of menstruation and pregnancy. We used data from a population cohort study to model the impact of menstruation cessation at menopause on serum ferritin (SF) levels in female p.C282Y homozygotes, with p.C282Y/p.H63D simple or compound heterozygotes and those with neither p.C282Y nor p.H63D mutations (HFE wild types) as comparison groups.
methodsA sample of the Melbourne Collaborative Cohort Study was selected for the "HealthIron" study (n = 1438) including all HFE p.C282Y homozygotes plus a random sample stratified by HFE-genotype (p.C282Y and p.H63D). The relationship between the natural logarithm of SF and time since menopause was examined using linear mixed models incorporating spline smoothing.
resultsFor p.C282Y homozygotes, SF increased by a factor of 3.6 (95% CI (1.8, 7.0), P < 0.001) during the first 10 years postmenopause, after which SF continued to increase but at less than half the previous rate. In contrast, SF profiles for other HFE genotype groups increase more gradually and did not show a distinction between premenopausal and postmenopausal SF levels. Only p.C282Y homozygotes had predicted SF exceeding 200 μg/L postmenopause, but the projected SF did not increase the risk of iron overload-related disease.
conclusionsThese data provide the first documented evidence that physiological blood loss is a major factor in determining the marked gender difference in expression of p.C282Y homozygosity.
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Registered trials
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