{"id":"https://openalex.org/W2159183686","doi":null,"title":"The influence of hemochromatosis mutations on iron overload of thalassemia major.","display_name":"The influence of hemochromatosis mutations on iron overload of thalassemia major.","publication_year":1999,"publication_date":"1999-09-01","ids":{"openalex":"https://openalex.org/W2159183686","mag":"2159183686","pmid":"https://pubmed.ncbi.nlm.nih.gov/10477452"},"language":"en","primary_location":{"id":"pmid:10477452","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10477452","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":"Haematologica","raw_type":"Comparative Study"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["doaj","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/A5060065071","display_name":"Filomena Longo","orcid":"https://orcid.org/0000-0002-0434-0382","observed_orcids":["https://orcid.org/0000-0002-0434-0382"]},"institutions":[{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"F Longo","raw_affiliation_strings":["Dipartimento di Scienze Pediatriche, Universit\u00e0 di Torino, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipartimento di Scienze Pediatriche, Universit\u00e0 di Torino, Italy","institution_ids":["https://openalex.org/I55143463"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082295361","display_name":"Gabriella Zecchina","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"G Zecchina","raw_affiliation_strings":["University of Turin"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Turin","institution_ids":["https://openalex.org/I55143463"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060712891","display_name":"Luca Sbaiz","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L Sbaiz","raw_affiliation_strings":["Dipto. di Patologia Clinica O.I.R.M"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dipto. di Patologia Clinica O.I.R.M","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"R Fischer","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R Fischer","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051452439","display_name":"Antonio Giulio Piga","orcid":"https://orcid.org/0000-0002-2197-1899","observed_orcids":["https://orcid.org/0000-0002-2197-1899"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A Piga","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5057071664","display_name":"Clara Camaschella","orcid":"https://orcid.org/0000-0003-1427-0143","observed_orcids":["https://orcid.org/0000-0003-1427-0143"]},"institutions":[{"id":"https://openalex.org/I4210133214","display_name":"IRCCS Ospedale San Raffaele","ror":"https://ror.org/039zxt351","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210133214","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"C Camaschella","raw_affiliation_strings":["IRCCS Ospedale San Raffaele"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IRCCS Ospedale San Raffaele","institution_ids":["https://openalex.org/I4210133214"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.9454,"has_fulltext":false,"cited_by_count":55,"citation_normalized_percentile":{"value":0.72229927,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":99},"biblio":{"volume":"84","issue":"9","first_page":"799","last_page":"803"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":0.8871999979019165,"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":0.8871999979019165,"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/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.11110000312328339,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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":9.999999747378752e-05,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/hemochromatosis","display_name":"hemochromatosis","score":0.9480000138282776},{"id":"https://openalex.org/keywords/hfe-mutations","display_name":"HFE gene mutations","score":0.8989999890327454},{"id":"https://openalex.org/keywords/thalassemia-major","display_name":"thalassemia major","score":0.9419999718666077},{"id":"https://openalex.org/keywords/secondary-iron-overload","display_name":"secondary iron overload","score":0.8619999885559082},{"id":"https://openalex.org/keywords/transfusion-dependent-patients","display_name":"transfusion-dependent patients","score":0.6949999928474426},{"id":"https://openalex.org/keywords/iron-chelation","display_name":"iron chelation","score":0.8259999752044678},{"id":"https://openalex.org/keywords/serum-ferritin","display_name":"serum ferritin","score":0.8899999856948853},{"id":"https://openalex.org/keywords/liver-iron-concentration","display_name":"liver iron concentration","score":0.9769999980926514},{"id":"https://openalex.org/keywords/c282y-mutation","display_name":"C282Y mutation","score":0.9229999780654907},{"id":"https://openalex.org/keywords/h63d-mutation","display_name":"H63D mutation","score":0.9990000128746033},{"id":"https://openalex.org/keywords/allele-frequency","display_name":"allele frequency","score":0.8059999942779541},{"id":"https://openalex.org/keywords/iron-balance","display_name":"iron balance","score":0.4099999964237213}],"concepts":[{"id":"https://openalex.org/C2776590208","wikidata":"https://www.wikidata.org/wiki/Q2025687","display_name":"Hemochromatosis","level":2,"score":0.7782542705535889},{"id":"https://openalex.org/C2777799968","wikidata":"https://www.wikidata.org/wiki/Q185137","display_name":"Thalassemia","level":2,"score":0.75107342004776},{"id":"https://openalex.org/C3018783601","wikidata":"https://www.wikidata.org/wiki/Q3144934","display_name":"Hereditary hemochromatosis","level":3,"score":0.6159971356391907},{"id":"https://openalex.org/C2777218474","wikidata":"https://www.wikidata.org/wiki/Q1069061","display_name":"Chelation therapy","level":3,"score":0.5802419185638428},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5782207250595093},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.55307936668396},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.5452563762664795},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.5388083457946777},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.4992823600769043},{"id":"https://openalex.org/C2777940137","wikidata":"https://www.wikidata.org/wiki/Q3616632","display_name":"Beta thalassemia","level":3,"score":0.48080554604530334},{"id":"https://openalex.org/C2781053155","wikidata":"https://www.wikidata.org/wiki/Q5251502","display_name":"Deferasirox","level":3,"score":0.47877228260040283},{"id":"https://openalex.org/C2778319317","wikidata":"https://www.wikidata.org/wiki/Q22327449","display_name":"Ferritin","level":2,"score":0.4350408613681793},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.42068302631378174},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.4141163229942322},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3533985912799835},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.24663984775543213},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.19399592280387878},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.16083693504333496}],"mesh":[{"descriptor_ui":"D000071020","descriptor_name":"Hemochromatosis Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001803","descriptor_name":"Blood Transfusion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006680","descriptor_name":"HLA Antigens","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015395","descriptor_name":"Histocompatibility Antigens Class I","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015913","descriptor_name":"Chelation Therapy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017086","descriptor_name":"beta-Thalassemia","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D017086","descriptor_name":"beta-Thalassemia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D017086","descriptor_name":"beta-Thalassemia","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019190","descriptor_name":"Iron Overload","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D019190","descriptor_name":"Iron Overload","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D019190","descriptor_name":"Iron Overload","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"pmid:10477452","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10477452","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":"Haematologica","raw_type":"Comparative Study"},{"id":"pmh:oai:doaj.org/article:783ec3e4b8c04bb89a6d621f2469c10f","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/783ec3e4b8c04bb89a6d621f2469c10f","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Haematologica, Vol 84, Iss 9 (1999)","raw_type":"article"},{"id":"pmh:oai:iris.unito.it:2318/36674","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2318/36674","pdf_url":null,"source":{"id":"https://openalex.org/S4306400637","display_name":"Institutional Research Information System University of Turin (University of Turin)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I55143463","host_organization_name":"University of Turin","host_organization_lineage":["https://openalex.org/I55143463"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"mag:2159183686","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10477452","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":23,"referenced_works":["https://openalex.org/W1432999597","https://openalex.org/W1559980214","https://openalex.org/W1562221129","https://openalex.org/W1596378476","https://openalex.org/W1981883533","https://openalex.org/W1988318122","https://openalex.org/W1996965085","https://openalex.org/W2002605005","https://openalex.org/W2016695765","https://openalex.org/W2028107207","https://openalex.org/W2064063117","https://openalex.org/W2064765721","https://openalex.org/W2074897240","https://openalex.org/W2084392781","https://openalex.org/W2098058233","https://openalex.org/W2098087474","https://openalex.org/W2114030946","https://openalex.org/W2141937988","https://openalex.org/W2143716524","https://openalex.org/W2144634347","https://openalex.org/W2175913602","https://openalex.org/W2338855129","https://openalex.org/W4242093467"],"related_works":["https://openalex.org/W2738325920","https://openalex.org/W1996965085","https://openalex.org/W2411918192","https://openalex.org/W2971899000","https://openalex.org/W1970622021","https://openalex.org/W1984864468","https://openalex.org/W1514090111","https://openalex.org/W2509491828","https://openalex.org/W1999207491","https://openalex.org/W3085859331"],"abstract_inverted_index":{"BACKGROUND":[0],"AND":[1,57,219],"OBJECTIVE:":[2],"Hemochromatosis":[3],"is":[4,20],"a":[5,13,228,247],"genetic":[6],"form":[7],"of":[8,36,46,49,81,116,145,159,178,192,227,240],"iron":[9,18,47,82,90,139,149,241],"overload":[10,19,48],"due":[11],"to":[12],"defective":[14],"HFE":[15,37,54,59,102,111,207,233],"gene.":[16],"Secondary":[17],"the":[21,34,44,101,138,143,197,225,232,238],"main":[22],"complication":[23],"in":[24,39,63,69,95,100,105,168,174,190,231,243],"transfusion-dependent":[25],"thalassemia":[26,40,244],"patients.":[27,184],"In":[28,135],"this":[29],"work":[30],"we":[31],"have":[32],"examined":[33],"prevalence":[35],"mutations":[38,60,99],"major":[41],"and":[42,52,68,75,88,104,127,132,148,161,166,170,172,205,250],"evaluated":[43],"degree":[45,80],"patients":[50,67,97,117,169,203,245],"with":[51,98,108,204,212],"without":[53,206],"mutations.":[55,208],"DESIGN":[56],"METHODS:":[58],"were":[61,123,128,163],"studied":[62],"71":[64],"Italian":[65],"thalassemic":[66],"189":[70],"normal":[71],"controls,":[72],"using":[73],"PCR":[74],"restriction":[76],"enzyme":[77],"analysis.":[78],"The":[79,113,156,209],"overload,":[83],"assessed":[84],"by":[85,151],"serum":[86,193],"ferritin":[87],"liver":[89],"concentration":[91],"(LIC),":[92],"was":[93,153,181,188,215],"compared":[94],"17":[96,106],"gene,":[103],"subjects":[107],"wild":[109],"type":[110],"genotype.":[112],"two":[114],"groups":[115],"had":[118],"comparable":[119],"globin":[120],"gene":[121,234],"mutations,":[122],"matched":[124],"for":[125,130],"age":[126,198],"homogeneous":[129],"transfusion":[131,146,249],"chelation":[133,152,200,251],"history.":[134],"all":[136],"cases":[137],"balance":[140],"calculated":[141],"on":[142],"basis":[144],"regimen":[147],"excreted":[150],"available.":[154],"RESULTS:":[155],"allele":[157],"frequencies":[158],"C282Y":[160,179],"H63D":[162,213],"respectively":[164],"1.4%":[165],"12.7%":[167],"1.1%":[171],"11.4%":[173],"controls.":[175],"No":[176,185],"case":[177],"homozygosity":[180,214],"recorded":[182],"among":[183],"significant":[186],"difference":[187],"found":[189],"terms":[191],"ferritin,":[194],"LIC,":[195],"or":[196],"at":[199],"start":[201],"between":[202],"single":[210,229],"patient":[211],"severely":[216],"iron-loaded.":[217],"INTERPRETATION":[218],"CONCLUSIONS:":[220],"Our":[221],"data":[222],"suggest":[223],"that":[224],"presence":[226],"mutation":[230],"does":[235],"not":[236],"influence":[237],"severity":[239],"loading":[242],"following":[246],"regular":[248],"program.":[252]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":8},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}