{"doi":"10.1111/j.1440-1746.2004.03436.x","title":"Expression of the <i>HFE</i> hemochromatosis gene in a community‐based population of elderly women","abstract":"<jats:title>Abstract</jats:title><jats:p><jats:bold>Background and Aim: </jats:bold> Recent studies suggest that the clinical penetrance of associated hereditary hemochromatosis, defined as either the C282Y homozygote or compound heterozygote <jats:italic>HFE</jats:italic> genotype status, is much lower than previously thought.</jats:p><jats:p><jats:bold>Methods: </jats:bold> We investigated the clinical penetrance and phenotypic expression of <jats:italic>HFE</jats:italic>‐associated hereditary hemochromatosis in a community‐based population of 1352 elderly female subjects with a mean age of 75 years. Serum transferrin saturation and ferritin levels were determined on all subjects bearing a C282Y mutation and a subset of wild‐type C282Y subjects.</jats:p><jats:p><jats:bold>Results: </jats:bold> The prevalences of the C282Y homozygous and compound heterozygous <jats:italic>HFE</jats:italic> genotypes were 0.15% (2/1352) and 2.0% (27/1352), respectively. The observed prevalence of 0.15% for C282Y homozygotes borders on significance (<jats:italic>P =</jats:italic> 0.054) for deviation from the Hardy–Weinberg population equilibrium calculations, which predict a prevalence of 0.49%, whereas the observed and predicted compound heterozygote prevalences were not significantly different. Clinical symptoms of hemochromatosis were absent in both the C282Y homozygote subjects. Of the compound heterozygous subjects, 2/27 (7%) had elevated serum transferrin saturation and ferritin values; however, clinical symptoms of hemochromatosis were absent in both. Considered as a whole, the compound heterozygous subjects had markedly elevated means for serum iron (19.4 <jats:italic>vs</jats:italic> 16.0 µmol/L, <jats:italic>P</jats:italic> = 0.0008), transferrin saturation (34.8% <jats:italic>vs</jats:italic> 25.2%, <jats:italic>P</jats:italic> &lt; 0.0001) and ferritin (157 <jats:italic>vs</jats:italic> 92 µg/L, <jats:italic>P</jats:italic> = 0.002) compared with the wild‐type subjects.</jats:p><jats:p><jats:bold>Conclusion: </jats:bold> The C282Y homozygous <jats:italic>HFE</jats:italic> hereditary hemochromatosis genotype was under‐represented in this elderly cohort, whereas the compound heterozygous genotype was not. None of the homozygous or compound heterozygous subjects expressed the phenotype of iron overload disease.</jats:p><jats:p>© 2004 Blackwell Publishing Asia Pty Ltd</jats:p>","journal":"Journal of Gastroenterology and Hepatology","year":2004,"id":684328,"datarank":0.16479184330021646,"base_score":1.0986122886681096,"endowment":1.0986122886681096,"self_citation_contribution":0.16479184330021646,"citation_network_contribution":0.0,"self_endowment_contribution":0.16479184330021646,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1787798,"name":"CONCHITA KUEK","orcid":null,"position":1,"is_corresponding":false},{"id":1787800,"name":"JOHN P BEILBY","orcid":null,"position":2,"is_corresponding":false},{"id":1787801,"name":"GARY P JEFFREY","orcid":null,"position":3,"is_corresponding":false},{"id":1787802,"name":"AMANDA DEVINE","orcid":null,"position":4,"is_corresponding":false},{"id":1787804,"name":"RICHARD L PRINCE","orcid":null,"position":5,"is_corresponding":false},{"id":1787797,"name":"ENRICO ROSSI","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Expression of the <i>HFE</i> hemochromatosis gene in a community‐based population of elderly women","abstract":"<jats:title>Abstract</jats:title><jats:p><jats:bold>Background and Aim: </jats:bold> Recent studies suggest that the clinical penetrance of associated hereditary hemochromatosis, defined as either the C282Y homozygote or compound heterozygote <jats:italic>HFE</jats:italic> genotype status, is much lower than previously thought.</jats:p><jats:p><jats:bold>Methods: </jats:bold> We investigated the clinical penetrance and phenotypic expression of <jats:italic>HFE</jats:italic>‐associated hereditary hemochromatosis in a community‐based population of 1352 elderly female subjects with a mean age of 75 years. Serum transferrin saturation and ferritin levels were determined on all subjects bearing a C282Y mutation and a subset of wild‐type C282Y subjects.</jats:p><jats:p><jats:bold>Results: </jats:bold> The prevalences of the C282Y homozygous and compound heterozygous <jats:italic>HFE</jats:italic> genotypes were 0.15% (2/1352) and 2.0% (27/1352), respectively. The observed prevalence of 0.15% for C282Y homozygotes borders on significance (<jats:italic>P =</jats:italic> 0.054) for deviation from the Hardy–Weinberg population equilibrium calculations, which predict a prevalence of 0.49%, whereas the observed and predicted compound heterozygote prevalences were not significantly different. Clinical symptoms of hemochromatosis were absent in both the C282Y homozygote subjects. Of the compound heterozygous subjects, 2/27 (7%) had elevated serum transferrin saturation and ferritin values; however, clinical symptoms of hemochromatosis were absent in both. Considered as a whole, the compound heterozygous subjects had markedly elevated means for serum iron (19.4 <jats:italic>vs</jats:italic> 16.0 µmol/L, <jats:italic>P</jats:italic> = 0.0008), transferrin saturation (34.8% <jats:italic>vs</jats:italic> 25.2%, <jats:italic>P</jats:italic> &lt; 0.0001) and ferritin (157 <jats:italic>vs</jats:italic> 92 µg/L, <jats:italic>P</jats:italic> = 0.002) compared with the wild‐type subjects.</jats:p><jats:p><jats:bold>Conclusion: </jats:bold> The C282Y homozygous <jats:italic>HFE</jats:italic> hereditary hemochromatosis genotype was under‐represented in this elderly cohort, whereas the compound heterozygous genotype was not. None of the homozygous or compound heterozygous subjects expressed the phenotype of iron overload disease.</jats:p><jats:p>© 2004 Blackwell Publishing Asia Pty Ltd</jats:p>","is_dataset_classified":null,"base_score":1.0986122886681096,"endowment":1.0986122886681096,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"15377292","pmcid":null,"openalex_id":"https://openalex.org/W2090631947","authors":[],"funders":[],"total_grants":0,"fwci":0.1473,"citation_percentile":0.48181305,"influential_citations":0,"citation_trend":[],"oa_status":"closed","license":"http://onlinelibrary.wiley.com/termsAndConditions#vor","oa_locations":[{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1440-1746.2004.03436.x","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1440-1746.2004.03436.x","host_type":"publisher"},{"url":"https://doi.org/10.1111/j.1440-1746.2004.03436.x","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/15377292","host_type":"repository"},{"url":"https://research-repository.uwa.edu.au/en/publications/7997461f-4735-4688-9f30-8c26bba3a632","host_type":"repository"},{"url":"https://ro.ecu.edu.au/ecuworks/5214","host_type":"journal"}],"fields_of_study":["Iron Metabolism and Disorders","Hemoglobinopathies and Related Disorders","Magnesium in Health and Disease","Aged","Aged, 80 and over","Australia","Cohort Studies","Female","Ferritins","Genetic Predisposition to Disease","Genotype","Hemochromatosis","Hemochromatosis Protein","Histocompatibility Antigens Class I","Humans","Membrane Proteins","Penetrance","Residence Characteristics"],"mesh_terms":["Hemochromatosis Protein","Aged","Aged, 80 and over","Australia","Female","Ferritins","Genotype","Hemochromatosis","Humans","Membrane Proteins","Residence Characteristics","Cohort Studies","Histocompatibility Antigens Class I","Penetrance","Genetic Predisposition to Disease"],"keywords":["Transferrin saturation","Hemochromatosis","Hereditary hemochromatosis","Penetrance","Compound heterozygosity","Medicine","Heterozygote advantage","Ferritin","Internal medicine","Genotype","Gastroenterology","Serum iron","Population","Transferrin","Endocrinology","Genetics","Anemia","Phenotype","Serum ferritin","Biology","Gene"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-18T13:49:02.199774Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}