{"id":"https://openalex.org/W6979070232","doi":null,"title":"Hereditary hemochromatosis.","display_name":"Hereditary hemochromatosis.","publication_year":2008,"publication_date":"2008-12-01","ids":{"openalex":"https://openalex.org/W6979070232","pmid":"https://pubmed.ncbi.nlm.nih.gov/19034258"},"language":"en","primary_location":{"id":"pmid:19034258","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19034258","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Minerva medica","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5086576003","display_name":"Oren K. Fix","orcid":"https://orcid.org/0000-0002-8570-9646","observed_orcids":["https://orcid.org/0000-0002-8570-9646"]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"O K Fix","raw_affiliation_strings":["Division of Gastroenterology, University of California, San Francisco, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Gastroenterology, University of California, San Francisco, CA, USA","institution_ids":["https://openalex.org/I180670191"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5091028785","display_name":"Kris V. Kowdley","orcid":"https://orcid.org/0000-0002-8553-3652","observed_orcids":["https://orcid.org/0000-0002-8553-3652"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"K V Kowdley","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.9139,"has_fulltext":false,"cited_by_count":21,"citation_normalized_percentile":{"value":0.86957154,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"99","issue":"6","first_page":"605","last_page":"17"},"is_retracted":false,"is_paratext":false,"is_xpac":true,"primary_topic":{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13481","display_name":"Neurological diseases and metabolism","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/hereditary-hemochromatosis","display_name":"hereditary hemochromatosis","score":1.0},{"id":"https://openalex.org/keywords/hfe-gene","display_name":"HFE gene","score":0.5770000219345093},{"id":"https://openalex.org/keywords/c282y-mutation","display_name":"C282Y mutation","score":0.9639999866485596},{"id":"https://openalex.org/keywords/h63d-mutation","display_name":"H63D mutation","score":0.9520000219345093},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.7850000262260437},{"id":"https://openalex.org/keywords/iron-overload","display_name":"iron overload","score":0.699999988079071},{"id":"https://openalex.org/keywords/hepcidin","display_name":"hepcidin","score":0.8830000162124634},{"id":"https://openalex.org/keywords/ferroportin","display_name":"ferroportin","score":0.9589999914169312},{"id":"https://openalex.org/keywords/iron-metabolism-disorders","display_name":"iron metabolism disorders","score":0.746999979019165},{"id":"https://openalex.org/keywords/liver-cirrhosis","display_name":"liver cirrhosis","score":0.9459999799728394},{"id":"https://openalex.org/keywords/diabetes-mellitus","display_name":"diabetes mellitus","score":0.8740000128746033},{"id":"https://openalex.org/keywords/cardiomyopathy","display_name":"cardiomyopathy","score":0.7720000147819519},{"id":"https://openalex.org/keywords/phlebotomy","display_name":"phlebotomy","score":0.8550000190734863},{"id":"https://openalex.org/keywords/iron-depletion","display_name":"iron depletion","score":0.746999979019165},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.6980000138282776},{"id":"https://openalex.org/keywords/penetrance","display_name":"penetrance","score":0.6230000257492065},{"id":"https://openalex.org/keywords/sex-differences","display_name":"sex differences","score":0.7960000038146973},{"id":"https://openalex.org/keywords/mass-screening","display_name":"mass screening","score":0.6549999713897705},{"id":"https://openalex.org/keywords/first-degree-relatives","display_name":"first-degree relatives","score":0.5}],"concepts":[{"id":"https://openalex.org/C3018783601","wikidata":"https://www.wikidata.org/wiki/Q3144934","display_name":"Hereditary hemochromatosis","level":3,"score":0.8416000008583069},{"id":"https://openalex.org/C2776768029","wikidata":"https://www.wikidata.org/wiki/Q14882371","display_name":"Hepcidin","level":3,"score":0.774399995803833},{"id":"https://openalex.org/C153852466","wikidata":"https://www.wikidata.org/wiki/Q907072","display_name":"Transferrin saturation","level":4,"score":0.7469000220298767},{"id":"https://openalex.org/C2776590208","wikidata":"https://www.wikidata.org/wiki/Q2025687","display_name":"Hemochromatosis","level":2,"score":0.7240999937057495},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6459000110626221},{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.6312999725341797},{"id":"https://openalex.org/C2777357209","wikidata":"https://www.wikidata.org/wiki/Q3595842","display_name":"Phlebotomy","level":2,"score":0.6195999979972839},{"id":"https://openalex.org/C2777214474","wikidata":"https://www.wikidata.org/wiki/Q147778","display_name":"Cirrhosis","level":2,"score":0.579800009727478},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.5558000206947327},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.5264999866485596},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.484499990940094},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.47999998927116394},{"id":"https://openalex.org/C2777075537","wikidata":"https://www.wikidata.org/wiki/Q929737","display_name":"Liver disease","level":2,"score":0.38260000944137573},{"id":"https://openalex.org/C2776710925","wikidata":"https://www.wikidata.org/wiki/Q24777245","display_name":"Ferroportin","level":4,"score":0.3646000027656555},{"id":"https://openalex.org/C2779875672","wikidata":"https://www.wikidata.org/wiki/Q2537479","display_name":"Serum iron","level":3,"score":0.358599990606308},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.35010001063346863},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3474999964237213},{"id":"https://openalex.org/C2777417653","wikidata":"https://www.wikidata.org/wiki/Q1313081","display_name":"Iron deficiency","level":3,"score":0.34310001134872437},{"id":"https://openalex.org/C2778319317","wikidata":"https://www.wikidata.org/wiki/Q22327449","display_name":"Ferritin","level":2,"score":0.3416999876499176},{"id":"https://openalex.org/C2780883591","wikidata":"https://www.wikidata.org/wiki/Q1413860","display_name":"Siderosis","level":2,"score":0.33230000734329224},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.3224000036716461},{"id":"https://openalex.org/C2781223928","wikidata":"https://www.wikidata.org/wiki/Q1479497","display_name":"Porphyria cutanea tarda","level":2,"score":0.30979999899864197},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.2928999960422516},{"id":"https://openalex.org/C22814914","wikidata":"https://www.wikidata.org/wiki/Q410473","display_name":"Transferrin","level":2,"score":0.28870001435279846},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.25949999690055847},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.2587999999523163},{"id":"https://openalex.org/C2777575235","wikidata":"https://www.wikidata.org/wiki/Q558404","display_name":"Alcoholic liver disease","level":3,"score":0.25290000438690186}],"mesh":[{"descriptor_ui":"D000071020","descriptor_name":"Hemochromatosis Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006432","descriptor_name":"Hemochromatosis","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D006432","descriptor_name":"Hemochromatosis","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D006432","descriptor_name":"Hemochromatosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006432","descriptor_name":"Hemochromatosis","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007501","descriptor_name":"Iron","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008113","descriptor_name":"Liver Neoplasms","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015395","descriptor_name":"Histocompatibility Antigens Class I","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019683","descriptor_name":"Penetrance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":1,"locations":[{"id":"pmid:19034258","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19034258","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Minerva medica","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G7105173782","display_name":"Patient Oriented Research & Mentoring in liver diseases","funder_award_id":"K24DK002957","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1984215095","https://openalex.org/W2018582439","https://openalex.org/W2097657869","https://openalex.org/W2343845675","https://openalex.org/W1981757167","https://openalex.org/W2122177894","https://openalex.org/W4207080376","https://openalex.org/W4384009045","https://openalex.org/W1983094619","https://openalex.org/W2563720584"],"abstract_inverted_index":{"Hereditary":[0],"hemochromatosis":[1],"(HH)":[2],"refers":[3],"to":[4,12,234],"several":[5],"inherited":[6],"disorders":[7],"of":[8,37,82,107,128,150,171,205,224,251,256,264],"iron":[9,14,55,60,66,115,166,197,200,227,237],"metabolism":[10],"leading":[11],"tissue":[13],"overload.":[15],"Classical":[16,179],"HH":[17,43,90,129,153,180,206,225,246],"is":[18,31,44,58,181,207,247],"associated":[19,42,135],"with":[20,99,111,136,214,220,232],"mutations":[21,47],"in":[22,35,48,54,109,130,152,212],"HFE":[23],"(C282Y":[24],"homozygotes":[25,124],"or":[26,76,173],"C282Y/H63D":[27],"compound":[28],"heterozygotes)":[29],"and":[30,70,86,97,101,125,142,159,186,189,199,226,261],"almost":[32],"exclusively":[33],"found":[34],"populations":[36,260],"northern":[38],"European":[39],"descent.":[40],"Non-HFE":[41],"caused":[45],"by":[46,89,183,196,209,240],"other":[49,137],"recently":[50],"identified":[51],"genes":[52],"involved":[53],"metabolism.":[56],"Hepcidin":[57],"an":[59,221],"regulatory":[61],"hormone":[62],"that":[63],"inhibits":[64],"ferroportin-mediated":[65],"export":[67],"from":[68],"enterocytes":[69],"macrophages.":[71],"Defective":[72],"hepcidin":[73],"gene":[74],"expression":[75],"function":[77],"may":[78,267],"underlie":[79],"most":[80,147],"forms":[81],"HH.":[83],"Target":[84],"organs":[85],"tissues":[87],"affected":[88,193,265],"include":[91],"the":[92,143,169],"liver,":[93],"heart,":[94],"pancreas,":[95],"joints,":[96],"skin,":[98],"cirrhosis":[100,172],"diabetes":[102,174],"mellitus":[103],"representing":[104],"late":[105],"signs":[106,127],"disease":[108,121],"patients":[110,132,162,213],"markedly":[112],"elevated":[113,215],"liver":[114,155],"concentration.":[116],"Compound":[117],"heterozygotes":[118],"have":[119,176],"milder":[120],"than":[122,194],"C282Y":[123],"clinical":[126],"these":[131],"are":[133,154,191],"usually":[134],"factors":[138],"such":[139],"as":[140],"alcoholism":[141],"dysmetabolic":[144],"syndrome.":[145],"The":[146,203],"frequent":[148],"causes":[149],"death":[151],"cancer,":[156],"cirrhosis,":[157],"cardiomyopathy,":[158],"diabetes,":[160],"but":[161,254],"who":[163],"undergo":[164],"successful":[165],"depletion":[167,238],"before":[168],"development":[170],"can":[175],"normal":[177],"survival.":[178],"characterized":[182],"incomplete":[184,252],"penetrance":[185],"variable":[187],"expressivity,":[188],"women":[190],"less":[192],"men":[195],"overload":[198,228],"overload-related":[201],"disease.":[202],"diagnosis":[204,223],"established":[208,222],"genetic":[210],"testing":[211],"transferrin":[216],"saturation":[217],"values.":[218],"Patients":[219],"should":[229],"be":[230,268],"treated":[231],"phlebotomy":[233],"achieve":[235],"body":[236],"followed":[239],"maintenance":[241],"phlebotomy.":[242],"Population":[243],"screening":[244,255],"for":[245],"controversial":[248],"principally":[249],"because":[250],"penetrance,":[253],"selected,":[257],"high":[258],"risk":[259],"first-degree":[262],"relatives":[263],"probands":[266],"cost":[269],"effective.":[270]},"counts_by_year":[{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2025-10-10T00:00:00"}