{"id":"https://openalex.org/W2186463074","doi":null,"title":"Frequency of C282Y, H63D, S65C Hereditary Hemochromatosis Gene Mutations in Syrian Population and Their Association with Serum Iron Overload","display_name":"Frequency of C282Y, H63D, S65C Hereditary Hemochromatosis Gene Mutations in Syrian Population and Their Association with Serum Iron Overload","publication_year":2013,"publication_date":"2013-01-01","ids":{"openalex":"https://openalex.org/W2186463074","mag":"2186463074"},"language":"en","primary_location":{"id":"mag:2186463074","doi":null,"is_oa":false,"landing_page_url":"http://globalresearchonline.net/journalcontents/v22-2/39.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"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/A5057556943","display_name":"Taghrid Hammoud","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Taghrid Hammoud","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056964087","display_name":"Abir Kadar","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Abir Kadar","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080018416","display_name":"Hana Zarzour","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hana Zarzour","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5007347217","display_name":"Ammar Madania","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ammar Madania","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":93},"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"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/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"}},{"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"}}],"keywords":[{"id":"https://openalex.org/keywords/hereditary-hemochromatosis","display_name":"hereditary hemochromatosis","score":0.9990000128746033},{"id":"https://openalex.org/keywords/hfe-mutations","display_name":"HFE gene mutations","score":0.9340000152587891},{"id":"https://openalex.org/keywords/c282y-mutation","display_name":"C282Y mutation","score":0.9459999799728394},{"id":"https://openalex.org/keywords/h63d-mutation","display_name":"H63D mutation","score":1.0},{"id":"https://openalex.org/keywords/s65c-mutation","display_name":"S65C mutation","score":1.0},{"id":"https://openalex.org/keywords/allele-frequency","display_name":"allele frequency","score":0.8069999814033508},{"id":"https://openalex.org/keywords/serum-iron","display_name":"serum iron","score":0.5950000286102295},{"id":"https://openalex.org/keywords/iron-overload","display_name":"iron overload","score":0.9679999947547913},{"id":"https://openalex.org/keywords/syrian-population","display_name":"Syrian population","score":0.9210000038146973},{"id":"https://openalex.org/keywords/blood-donors","display_name":"blood donors","score":0.7910000085830688}],"concepts":[{"id":"https://openalex.org/C3018783601","wikidata":"https://www.wikidata.org/wiki/Q3144934","display_name":"Hereditary hemochromatosis","level":3,"score":0.749639093875885},{"id":"https://openalex.org/C2776590208","wikidata":"https://www.wikidata.org/wiki/Q2025687","display_name":"Hemochromatosis","level":2,"score":0.7389011383056641},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6194071769714355},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.48604828119277954},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.48597395420074463},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4814538359642029},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.47729647159576416},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.413490355014801},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4089623689651489},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3888310492038727},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.29663437604904175},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.22246995568275452},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2186463074","doi":null,"is_oa":false,"landing_page_url":"http://globalresearchonline.net/journalcontents/v22-2/39.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9940000176429749,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":34,"referenced_works":["https://openalex.org/W149666142","https://openalex.org/W1485603813","https://openalex.org/W1529477620","https://openalex.org/W1761222131","https://openalex.org/W1858626264","https://openalex.org/W1968415500","https://openalex.org/W1981728872","https://openalex.org/W1990537388","https://openalex.org/W1991074147","https://openalex.org/W1992522603","https://openalex.org/W2002605005","https://openalex.org/W2004936857","https://openalex.org/W2015440054","https://openalex.org/W2016421146","https://openalex.org/W2025741391","https://openalex.org/W2026333836","https://openalex.org/W2038944724","https://openalex.org/W2044075379","https://openalex.org/W2047128981","https://openalex.org/W2079904892","https://openalex.org/W2090851459","https://openalex.org/W2095422415","https://openalex.org/W2113632892","https://openalex.org/W2121020668","https://openalex.org/W2132344671","https://openalex.org/W2149406240","https://openalex.org/W2152634212","https://openalex.org/W2155288918","https://openalex.org/W2161998284","https://openalex.org/W2163364365","https://openalex.org/W2173001239","https://openalex.org/W2173243207","https://openalex.org/W2438125520","https://openalex.org/W4237347818"],"related_works":["https://openalex.org/W2299234993","https://openalex.org/W130984424","https://openalex.org/W2004936857","https://openalex.org/W4414740657","https://openalex.org/W2588010556","https://openalex.org/W2974004972","https://openalex.org/W2030179617","https://openalex.org/W2239884118","https://openalex.org/W2474067190","https://openalex.org/W2033774133"],"abstract_inverted_index":{"Hemochromatosis":[0],"is":[1,39],"a":[2,206],"common":[3],"genetic":[4],"disease,":[5],"characterized":[6],"by":[7,97],"increased":[8],"absorption":[9],"of":[10,20,36,44,62,94,190,218],"iron.":[11],"If":[12],"not":[13,172,205],"treated":[14],"it":[15],"will":[16],"cause":[17],"excessive":[18],"accumulation":[19],"iron":[21,66,184,213],"in":[22,51,85,186],"some":[23],"organs":[24],"(liver,":[25],"heart,":[26],"brain,":[27],"pancreas),":[28],"and":[29,54,64,118,125,148,161,192,215],"consequently":[30],"irreversible":[31],"organ":[32],"failure.":[33],"The":[34,87,155],"objective":[35],"this":[37],"study":[38,69],"to":[40,55],"explore":[41],"the":[42,57,60,92,114,137,211,216],"prevalence":[43],"HFE":[45,95,219],"gene":[46],"mutations":[47,96,220],"(S282Y,":[48],"H63D,":[49],"S65C)":[50],"Syrian":[52,78],"population":[53],"investigate":[56],"relationship":[58],"between":[59,210],"presence":[61,93,217],"mutation":[63,139,191],"serum":[65,183,212],"overload.":[67],"Our":[68],"involved":[70],"751":[71,110],"randomly":[72],"selected":[73],"blood":[74,111],"donors":[75,112],"from":[76],"different":[77],"regions":[79],"reviewing":[80],"University":[81],"Blood":[82],"Transfusion":[83],"Center":[84],"Damascus.":[86],"subjects":[88,131,151,195],"were":[89,122,145],"analyzed":[90],"for":[91,133,152,167],"real-time":[98],"PCR":[99],"assay":[100],"based":[101],"on":[102],"TaqMan":[103],"technology":[104],"using":[105],"5\u2019-FAM":[106],"labeled":[107],"MGB-probes.":[108],"Among":[109],"tested,":[113],"observed":[115,201],"S282Y,":[116],"H63D":[117,138,153],"S65C":[119,156,168],"allele":[120],"frequency":[121],"0.2%,":[123],"12.3%":[124],"0.07%,":[126],"respectively.":[127],"We":[128,170,200],"found":[129,163],"three":[130],"heterozygous":[132,147,166],"S282Y":[134],"mutation.":[135,154,169,179],"Conversely":[136],"was":[140,157,204],"more":[141],"high":[142],"frequent;":[143],"there":[144,203],"143":[146],"21":[149],"homozygous":[150],"uncommon":[158],"or":[159],"rare":[160],"we":[162,181],"one":[164],"subject":[165,175,188],"did":[171],"observe":[173],"any":[174],"with":[176],"compound":[177],"heterozygote":[178],"Additionally,":[180],"measured":[182],"level":[185],"146":[187],"carriers":[189],"156":[193],"normal":[194],"used":[196],"as":[197],"control":[198],"group.":[199],"that":[202],"statistical":[207],"significance":[208],"correlation":[209],"levels":[214],"(p":[221],"value":[222],"=":[223],"0.10).":[224]},"counts_by_year":[{"year":2021,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
