{"doi":"10.1016/j.gimo.2024.101959","title":"Association of HFE genotypes with hemochromatosis-related phenotypes in the All of Us research program","abstract":"Purpose: variation with HH-related phenotypes and assess the prevalence of testing and diagnosis of HH using All of Us data. Methods: genotypes, we examined the prevalence of HH diagnosis codes and related biochemical and clinical phenotypes. Results: = .0001). Of the 71 participants who were p.Cys282Tyr homozygotes with indication of liver disease, 32 (45.1%) did not have a serum transferrin-iron saturation measure, and 37 (52.1%) did not have diagnosis codes for HH. Conclusion: Limited serum transferrin-iron saturation measures or HH diagnosis codes among p.Cys282Tyr homozygotes, even those with liver disease, suggests potential undertesting and underdiagnosis of type 1 HH in clinical practice and a need for improved awareness, education, and testing around HH.","journal":"Genetics in Medicine Open","year":2025,"id":551069,"datarank":0.10397207708399181,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"self_citation_contribution":0.10397207708399181,"citation_network_contribution":0.0,"self_endowment_contribution":0.10397207708399181,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.5998,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":49163,"name":"Ramal Moonesinghe","orcid":"0000-0001-5327-533X","position":1,"is_corresponding":false},{"id":1446545,"name":"Lu Shi","orcid":"0000-0002-1842-8334","position":2,"is_corresponding":false},{"id":1446917,"name":"Paul C. Adams","orcid":null,"position":3,"is_corresponding":false},{"id":251748,"name":"Gail P. Jarvik","orcid":"0000-0002-6710-8708","position":4,"is_corresponding":false},{"id":260249,"name":"Kris V. Kowdley","orcid":"0000-0002-8553-3652","position":5,"is_corresponding":false},{"id":271555,"name":"Laura A. Schieve","orcid":"0000-0003-1215-0682","position":6,"is_corresponding":false},{"id":332593,"name":"Scott D. Grosse","orcid":"0000-0003-1078-6855","position":7,"is_corresponding":false},{"id":692501,"name":"W. David Dotson","orcid":"0000-0002-9606-6594","position":8,"is_corresponding":false},{"id":526,"name":"Muin J. Khoury","orcid":"0000-0002-9887-443X","position":9,"is_corresponding":false},{"id":1149440,"name":"Nandana D. Rao","orcid":"0000-0001-8078-0999","position":0,"is_corresponding":true}],"reference_count":32,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T02:54:20.915388Z","pmid":"40034140","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":[]}