ArticleAnnals of hematology2010
Effects of C282Y, H63D, and S65C HFE gene mutations, diet, and life-style factors on iron status in a general Mediterranean population from Tarragona, Spain.
Article in Annals of hematology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 75 citations in OpenAlex.
- Genetic Variants Affecting Iron Metabolism in Healthy Adults: A Systematic Review to Support Personalized Nutrition Strategies.Nutrients · 2024Pooled it
- EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).European journal of human genetics : EJHG · 2016Guideline
- Trial
- Iron Overload: Pathophysiology, Diagnosis and Monitoring.International journal of laboratory hematology · 2026Review
- Iron chelation therapy in myelodysplastic syndromes and allogeneic hematopoietic cell transplantation, a delicate balance.Blood reviews · 2025Review
- Genetic history of Scythia.Science advances · 2025Article
- HFE mutations in patients with iron overload in Santa Catarina: a cross-sectional study.Sao Paulo medical journal = Revista paulista de medicina · 2025Article
- Article
- Hereditary hemochromatosis caused by a C282Y/H63D mutation in the HFE gene: A case report.Heliyon · 2024Article
- Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient's profile submitted to phlebotomy in two reference centers in southern Brazil.Genetics and molecular biology · 2023Article
- Gradient Boosting Machine Identified Predictive Variables for Breast Cancer Patients Pre- and Post-Radiotherapy: Preliminary Results of an 8-Year Follow-Up Study.Antioxidants (Basel, Switzerland) · 2022Article
- H63D Homozygous Mutation: An Unusual Cause of Deranged Liver Function Test in an Elderly Patient.Cureus · 2022Article
- C282Y/H63D Compound Heterozygosity Is a Low Penetrance Genotype for Iron Overload-related Disease.Journal of the Canadian Association of Gastroenterology · 2022Article
- Adapting prenatal iron supplementation to maternal needs results in optimal child neurodevelopment: a follow-up of the ECLIPSES Study.BMC pregnancy and childbirth · 2022Article
- Laparoscopic Sleeve Gastrectomy in Patients with Severe Obesity Restores Adaptive Responses Leading to Nonalcoholic Steatohepatitis.International journal of molecular sciences · 2022Article
- Genetic profiles to identify talents in elite endurance athletes and professional football players.PloS one · 2022Article
- Association of Habitual Dietary Intake with Liver Iron-A Population-Based Imaging Study.Nutrients · 2021Article
- Association between Iron Status and Incident Type 2 Diabetes: A Population-Based Cohort Study.Nutrients · 2020Article
- Transient elevation of serum ferritin in a Sri Lankan with homozygosity for H63D mutation in the HFE gene: a case report.Journal of medical case reports · 2020Article
- Serum Paraoxonase-1-Related Variables and Lipoprotein Profile in Patients with Lung or Head and Neck Cancer: Effect of Radiotherapy.Antioxidants (Basel, Switzerland) · 2019Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Mutations in the HFE gene result in iron overload and can produce hereditary hemochromatosis (HH), a disorder of iron metabolism characterized by increased intestinal iron absorption. Dietary quality, alcoholism and other life-style factors can increase the risk of iron overload, especially among genetically at risk populations. Polymorphisms of the HFE gene (C282Y, H63D and S65C) were measured together with serum ferritin (SF), transferrin saturation (TS) and hemoglobin, to measure iron status, in randomly-selected healthy subjects living in the Spanish Mediterranean coast (n = 815; 425 females, 390 males), 18 to 75 years of age. The intake of dietary components that affect iron absorption was calculated from 3-day dietary records. The presence of C282Y/H63D compound heterozygote that had a prevalence of 2.8% in males and 1.2% in females was associated with an elevated TS and SF. No subject was homozygous for C282Y or S65C. The C282Y heterozygote, H63D heterozygote and homozygote and H63D/S65C compound heterozygote genotypes were associated with increased TS relative to the wild type in the general population. These genotypes together with the alcohol and iron intake increase the indicators of iron status, while calcium intake decreases them. We did not observe any affect of the S65C heterozygote genotype on these levels. All the HFE genotypes except for the S65C heterozygote together with the alcohol, iron and calcium intake affect the indicators of iron status. The C282Y/H63D compound heterozygote genotype has the higher phenotypic expression in our Spanish Mediterranean population.
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Registered trials
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