{"id":"https://openalex.org/W3216366266","doi":"https://doi.org/10.1515/tjb-2020-0546","title":"Analysis of beta globin gene mutations in Diyarbakir","display_name":"Analysis of beta globin gene mutations in Diyarbakir","publication_year":2021,"publication_date":"2021-11-19","ids":{"openalex":"https://openalex.org/W3216366266","doi":"https://doi.org/10.1515/tjb-2020-0546","mag":"3216366266"},"language":"en","primary_location":{"id":"doi:10.1515/tjb-2020-0546","doi":"https://doi.org/10.1515/tjb-2020-0546","is_oa":true,"landing_page_url":"https://doi.org/10.1515/tjb-2020-0546","pdf_url":"https://www.degruyter.com/document/doi/10.1515/tjb-2020-0546/pdf","source":{"id":"https://openalex.org/S4210194879","display_name":"Turkish Journal of Biochemistry","issn_l":"0250-4685","issn":["0250-4685","1303-829X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","poland-20","russia-white-list-4","tr-dizin"],"host_organization":"https://openalex.org/P4310313990","host_organization_name":"De Gruyter","host_organization_lineage":["https://openalex.org/P4310313990"],"host_organization_lineage_names":["De Gruyter"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Turkish Journal of Biochemistry","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.degruyter.com/document/doi/10.1515/tjb-2020-0546/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033159278","display_name":"Selahattin Teke\u015f","orcid":"https://orcid.org/0000-0001-6405-1112","observed_orcids":["https://orcid.org/0000-0001-6405-1112"]},"institutions":[{"id":"https://openalex.org/I123466251","display_name":"Dicle University","ror":"https://ror.org/0257dtg16","country_code":"TR","type":"education","lineage":["https://openalex.org/I123466251"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Selahaddin Teke\u015f","raw_affiliation_strings":["Department of Medical Biology and Genetic, Medical Faculty , Dicle University , Diyarbak\u0131r , Turkey"],"raw_orcid":"https://orcid.org/0000-0001-6405-1112","affiliations":[{"raw_affiliation_string":"Department of Medical Biology and Genetic, Medical Faculty , Dicle University , Diyarbak\u0131r , Turkey","institution_ids":["https://openalex.org/I123466251"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086704863","display_name":"Diclehan Oral","orcid":"https://orcid.org/0000-0002-0074-0602","observed_orcids":["https://orcid.org/0000-0002-0074-0602"]},"institutions":[{"id":"https://openalex.org/I123466251","display_name":"Dicle University","ror":"https://ror.org/0257dtg16","country_code":"TR","type":"education","lineage":["https://openalex.org/I123466251"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Diclehan Oral","raw_affiliation_strings":["Department of Medical Biology and Genetic, Medical Faculty , Dicle University , Diyarbak\u0131r , Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Biology and Genetic, Medical Faculty , Dicle University , Diyarbak\u0131r , Turkey","institution_ids":["https://openalex.org/I123466251"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077260341","display_name":"Murat S\u00f6ker","orcid":"https://orcid.org/0000-0001-8463-2723","observed_orcids":["https://orcid.org/0000-0001-8463-2723"]},"institutions":[{"id":"https://openalex.org/I123466251","display_name":"Dicle University","ror":"https://ror.org/0257dtg16","country_code":"TR","type":"education","lineage":["https://openalex.org/I123466251"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Murat S\u00f6ker","raw_affiliation_strings":["Children\u2019s Health & Diseases Clinic, Medical Faculty , Dicle University , Diyarbak\u0131r , Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children\u2019s Health & Diseases Clinic, Medical Faculty , Dicle University , Diyarbak\u0131r , Turkey","institution_ids":["https://openalex.org/I123466251"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052923701","display_name":"Selda \u015eim\u015fek","orcid":"https://orcid.org/0000-0002-1585-7379","observed_orcids":["https://orcid.org/0000-0002-1585-7379"]},"institutions":[{"id":"https://openalex.org/I48843708","display_name":"Pamukkale University","ror":"https://ror.org/01etz1309","country_code":"TR","type":"education","lineage":["https://openalex.org/I48843708"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Selda \u015eim\u015fek","raw_affiliation_strings":["Department of Medical Biology, Medical Faculty , Pamukkale University , Denizli , Turkey"],"raw_orcid":"https://orcid.org/0000-0002-1585-7379","affiliations":[{"raw_affiliation_string":"Department of Medical Biology, Medical Faculty , Pamukkale University , Denizli , Turkey","institution_ids":["https://openalex.org/I48843708"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060355295","display_name":"Veysiye H\u00fclya \u00dczel","orcid":"https://orcid.org/0000-0002-3037-2353","observed_orcids":["https://orcid.org/0000-0002-3037-2353"]},"institutions":[{"id":"https://openalex.org/I123466251","display_name":"Dicle University","ror":"https://ror.org/0257dtg16","country_code":"TR","type":"education","lineage":["https://openalex.org/I123466251"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Veysiye H\u00fclya Uzel","raw_affiliation_strings":["Children\u2019s Health & Diseases Clinic, Medical Faculty , Dicle University , Diyarbak\u0131r , Turkey"],"raw_orcid":"https://orcid.org/0000-0002-3037-2353","affiliations":[{"raw_affiliation_string":"Children\u2019s Health & Diseases Clinic, Medical Faculty , Dicle University , Diyarbak\u0131r , Turkey","institution_ids":["https://openalex.org/I123466251"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5055399191","display_name":"Mehmet Akif \u00c7\u00fcr\u00fck","orcid":"https://orcid.org/0000-0002-4668-0852","observed_orcids":["https://orcid.org/0000-0002-4668-0852"]},"institutions":[{"id":"https://openalex.org/I55931168","display_name":"Cukurova University","ror":"https://ror.org/05wxkj555","country_code":"TR","type":"education","lineage":["https://openalex.org/I55931168"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Mehmet Akif \u00c7\u00fcr\u00fck","raw_affiliation_strings":["Department of Biochemistry, Medical Faculty , \u00c7ukurova University , Adana , Turkey"],"raw_orcid":"https://orcid.org/0000-0002-4668-0852","affiliations":[{"raw_affiliation_string":"Department of Biochemistry, Medical Faculty , \u00c7ukurova University , Adana , Turkey","institution_ids":["https://openalex.org/I55931168"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5033159278"],"corresponding_institution_ids":["https://openalex.org/I123466251"],"apc_list":{"value":600,"currency":"EUR","value_usd":710},"apc_paid":{"value":600,"currency":"EUR","value_usd":710},"fwci":0.2018,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":{"value":0.42994031,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"47","issue":"1","first_page":"113","last_page":"118"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":1.0,"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/T12094","display_name":"Hemoglobin structure and function","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/beta-thalassemia","display_name":"beta-thalassemia","score":0.843999981880188},{"id":"https://openalex.org/keywords/beta-globin-gene-mutations","display_name":"beta-globin gene mutations","score":0.9440000057220459},{"id":"https://openalex.org/keywords/beta-globin-gene","display_name":"beta-globin gene","score":0.8220000267028809},{"id":"https://openalex.org/keywords/hemoglobin-variants","display_name":"hemoglobin variants","score":0.871999979019165},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.7749999761581421},{"id":"https://openalex.org/keywords/synonymous-mutations","display_name":"synonymous mutations","score":0.7689999938011169},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.75},{"id":"https://openalex.org/keywords/diyarbakir","display_name":"Diyarbak\u0131r","score":0.8479999899864197},{"id":"https://openalex.org/keywords/southeastern-anatolia","display_name":"Southeastern Anatolia","score":0.824999988079071},{"id":"https://openalex.org/keywords/turkish-population","display_name":"Turkish population","score":0.7200000286102295}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6250908374786377},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.5932512283325195},{"id":"https://openalex.org/C2777799968","wikidata":"https://www.wikidata.org/wiki/Q185137","display_name":"Thalassemia","level":2,"score":0.5926997661590576},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5793655514717102},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5203704237937927},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4814531207084656},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4561126232147217},{"id":"https://openalex.org/C2777940137","wikidata":"https://www.wikidata.org/wiki/Q3616632","display_name":"Beta thalassemia","level":3,"score":0.4441484808921814},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4376761019229889},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.41963425278663635},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2775599956512451},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1515/tjb-2020-0546","doi":"https://doi.org/10.1515/tjb-2020-0546","is_oa":true,"landing_page_url":"https://doi.org/10.1515/tjb-2020-0546","pdf_url":"https://www.degruyter.com/document/doi/10.1515/tjb-2020-0546/pdf","source":{"id":"https://openalex.org/S4210194879","display_name":"Turkish Journal of Biochemistry","issn_l":"0250-4685","issn":["0250-4685","1303-829X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","poland-20","russia-white-list-4","tr-dizin"],"host_organization":"https://openalex.org/P4310313990","host_organization_name":"De Gruyter","host_organization_lineage":["https://openalex.org/P4310313990"],"host_organization_lineage_names":["De Gruyter"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Turkish Journal of Biochemistry","raw_type":"journal-article"},{"id":"pmh:oai:doaj.org/article:92208815437d47b5a55e564480910532","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/92208815437d47b5a55e564480910532","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":"T\u00fcrk Biyokimya Dergisi, Vol 47, Iss 1, Pp 113-118 (2021)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1515/tjb-2020-0546","doi":"https://doi.org/10.1515/tjb-2020-0546","is_oa":true,"landing_page_url":"https://doi.org/10.1515/tjb-2020-0546","pdf_url":"https://www.degruyter.com/document/doi/10.1515/tjb-2020-0546/pdf","source":{"id":"https://openalex.org/S4210194879","display_name":"Turkish Journal of Biochemistry","issn_l":"0250-4685","issn":["0250-4685","1303-829X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","poland-20","russia-white-list-4","tr-dizin"],"host_organization":"https://openalex.org/P4310313990","host_organization_name":"De Gruyter","host_organization_lineage":["https://openalex.org/P4310313990"],"host_organization_lineage_names":["De Gruyter"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Turkish Journal of Biochemistry","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9476000070571899,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320323388","display_name":"Dicle \u00dcniversitesi","ror":"https://ror.org/0257dtg16"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3216366266.pdf","grobid_xml":"https://content.openalex.org/works/W3216366266.grobid-xml"},"referenced_works_count":26,"referenced_works":["https://openalex.org/W579754915","https://openalex.org/W596629323","https://openalex.org/W1591469990","https://openalex.org/W1986231693","https://openalex.org/W2002323599","https://openalex.org/W2009656425","https://openalex.org/W2034952407","https://openalex.org/W2057444839","https://openalex.org/W2061220753","https://openalex.org/W2062149200","https://openalex.org/W2062982402","https://openalex.org/W2090189499","https://openalex.org/W2093231054","https://openalex.org/W2103502966","https://openalex.org/W2109187793","https://openalex.org/W2120877253","https://openalex.org/W2131939985","https://openalex.org/W2149244859","https://openalex.org/W2163939709","https://openalex.org/W2187922178","https://openalex.org/W2324313965","https://openalex.org/W2340739511","https://openalex.org/W2508028432","https://openalex.org/W2606186610","https://openalex.org/W2923803209","https://openalex.org/W3025523092"],"related_works":["https://openalex.org/W7221400776","https://openalex.org/W4409923830","https://openalex.org/W2599085135","https://openalex.org/W1996819596","https://openalex.org/W3042236687","https://openalex.org/W4394564472","https://openalex.org/W3156705229","https://openalex.org/W1842244304","https://openalex.org/W2034815246","https://openalex.org/W7097344290"],"abstract_inverted_index":{"Abstract":[0],"Objectives":[1],"Hemoglobin":[2],"disorders":[3],"are":[4],"quite":[5],"heterogeneous":[6],"in":[7,28,45,53,69,157,190,202],"the":[8,29,149,153,158,174],"Turkish":[9],"population.":[10],"Up":[11],"to":[12,37],"now,":[13],"more":[14],"than":[15],"forty":[16],"different":[17,73],"beta":[18,100],"thalassemia":[19,101],"mutations":[20,44,76,131,161],"and":[21,47,66,97,114,132,139,164,179,186],"60":[22],"hemoglobin":[23],"variants":[24,96,184],"have":[25],"been":[26],"characterized":[27,104],"country.":[30],"The":[31],"aim":[32],"of":[33,41,172],"this":[34,70,110,191],"study":[35],"was":[36,58,198],"investigate":[38],"genetic":[39,124],"heterogeneity":[40],"HBB":[42,74],"gene":[43,75],"patients":[46,119],"their":[48,67],"parents":[49,68],"at":[50,143],"Southeastern":[51],"Anatolia":[52],"Turkey.":[54,203],"Methods":[55],"Genomic":[56],"DNA":[57,106],"isolated":[59],"from":[60],"145":[61],"thalassemic":[62,118],"patients\u2019":[63],"blood":[64],"samples":[65],"study.":[71,192],"Ten":[72],"HBB:c.-80T>A,":[77],"HBB:c.17_18delCT,":[78],"HBB:c.25_26delAA,":[79],"HBB:c.92+1G>A,":[80],"HBB:c.92+5G>C,":[81],"HBB:c.92+6T>C,":[82],"HBB:c.93-21G>A,":[83],"HBB:c.135delC,":[84],"HBB:c.315+1G>A,":[85],"HBB:c.316-106C>G":[86],"were":[87,103,120,141,188],"screened":[88],"by":[89,105,122],"amplification":[90],"refractory":[91],"mutation":[92,102,156],"system.":[93],"Four":[94],"Hb":[95,183,193],"some":[98],"rare":[99],"sequencing.":[107],"Results":[108],"In":[109,148],"study,":[111],"97":[112],"homozygous":[113],"48":[115],"compound":[116],"heterozygous":[117],"diagnosed":[121],"molecular":[123],"analyses.":[125],"As":[126],"a":[127],"results,":[128,150],"18":[129],"\u03b2-thalassemia":[130],"four":[133],"abnormal":[134],"hemoglobins;":[135],"HBB:c.20A>T,":[136],"HBB:c.364G>C,":[137,180],"HBB:c.34G>A":[138],"HBB:c.208G>A":[140],"detected":[142,189],"Dicle":[144],"University":[145],"Hospital.":[146],"Conclusions":[147],"HBB:c.93-21G>A":[151],"is":[152],"most":[154],"common":[155],"region.":[159],"Three":[160],"[(HBB:c.93-21G>A),":[162],"(HBB:c.25_26delAA)":[163],"(HBB:c.135delC)]":[165],"account":[166],"for":[167],"about":[168],"58":[169],"per":[170],"cent":[171],"all":[173],"point":[175],"mutations.":[176],"Except":[177],"HBB:c.20A>T":[178],"two":[181],"silent":[182],"(HBB:c.34G>A":[185],"HBB:c.208G>A)":[187],"Hamilton":[194],"[\u03b211":[195],"(GTT>ATT)":[196],"Val>Ile]":[197],"seen":[199],"first":[200],"time":[201]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2021-12-06T00:00:00"}
