{"id":"https://openalex.org/W3194867390","doi":"https://doi.org/10.1080/03630269.2021.1965620","title":"IVS-II-16 (G>C) (HBB: c.315+16G>C) or IVS-II-666 (C>T) (HBB: c.316-185C>T) Mutations Trigger an Hb S (HBB: c.20A>T)/\u03b2+-Thalassemia Phenotype in an Hb S Trait Patient","display_name":"IVS-II-16 (G>C) (HBB: c.315+16G>C) or IVS-II-666 (C>T) (HBB: c.316-185C>T) Mutations Trigger an Hb S (HBB: c.20A>T)/\u03b2+-Thalassemia Phenotype in an Hb S Trait Patient","publication_year":2021,"publication_date":"2021-07-04","ids":{"openalex":"https://openalex.org/W3194867390","doi":"https://doi.org/10.1080/03630269.2021.1965620","mag":"3194867390","pmid":"https://pubmed.ncbi.nlm.nih.gov/34396882"},"language":"en","primary_location":{"id":"doi:10.1080/03630269.2021.1965620","doi":"https://doi.org/10.1080/03630269.2021.1965620","is_oa":false,"landing_page_url":"https://doi.org/10.1080/03630269.2021.1965620","pdf_url":null,"source":{"id":"https://openalex.org/S81929299","display_name":"Hemoglobin","issn_l":"0363-0269","issn":["0363-0269","1532-432X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320547","host_organization_name":"Taylor & Francis","host_organization_lineage":["https://openalex.org/P4310320547","https://openalex.org/P4310320449"],"host_organization_lineage_names":["Taylor & Francis","Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hemoglobin","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","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/A5014307961","display_name":"S\u00fcheyl U\u00e7ucu","orcid":"https://orcid.org/0000-0002-6320-2457","observed_orcids":["https://orcid.org/0000-0002-6320-2457"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"S\u00fcheyl U\u00e7ucu","raw_affiliation_strings":["Department of Medical Biochemistry, Mu\u011fla Public Health Care Laboratory, Mu\u011fla, Turkey"],"raw_orcid":"https://orcid.org/0000-0002-6320-2457","affiliations":[{"raw_affiliation_string":"Department of Medical Biochemistry, Mu\u011fla Public Health Care Laboratory, Mu\u011fla, Turkey","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065740210","display_name":"Talha Karab\u0131y\u0131k","orcid":"https://orcid.org/0000-0002-1339-7348","observed_orcids":["https://orcid.org/0000-0002-1339-7348"]},"institutions":[{"id":"https://openalex.org/I4405265970","display_name":"Bursa City Hospital","ror":"https://ror.org/02ynkzm22","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4405265970"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Talha Karab\u0131y\u0131k","raw_affiliation_strings":["Department of Medical Biochemistry, Bursa City Hospital, Bursa, Turkey"],"raw_orcid":"https://orcid.org/0000-0002-1339-7348","affiliations":[{"raw_affiliation_string":"Department of Medical Biochemistry, Bursa City Hospital, Bursa, Turkey","institution_ids":["https://openalex.org/I4405265970"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5021789490","display_name":"Fatih Mehmet Azik","orcid":"https://orcid.org/0000-0001-5715-4244","observed_orcids":["https://orcid.org/0000-0001-5715-4244"]},"institutions":[{"id":"https://openalex.org/I79946792","display_name":"Mu\u011fla University","ror":"https://ror.org/05n2cz176","country_code":"TR","type":"education","lineage":["https://openalex.org/I79946792"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Fatih M. Azik","raw_affiliation_strings":["Department of Pediatric Hematology-Oncology, Faculty of Medicine, Mu\u011fla S\u0131tk\u0131 Ko\u00e7man University, Mu\u011fla, Turkey"],"raw_orcid":"https://orcid.org/0000-0001-5715-4244","affiliations":[{"raw_affiliation_string":"Department of Pediatric Hematology-Oncology, Faculty of Medicine, Mu\u011fla S\u0131tk\u0131 Ko\u00e7man University, Mu\u011fla, Turkey","institution_ids":["https://openalex.org/I79946792"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5014307961"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.2018,"has_fulltext":false,"cited_by_count":6,"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":97},"biblio":{"volume":"45","issue":"4","first_page":"225","last_page":"227"},"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/T11660","display_name":"Blood groups and transfusion","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"}},{"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/sickle-cell-trait","display_name":"sickle cell trait","score":0.8930000066757202},{"id":"https://openalex.org/keywords/beta-globin-gene","display_name":"beta-globin gene","score":0.6620000004768372},{"id":"https://openalex.org/keywords/modifier-genes","display_name":"genetic modifiers","score":0.5920000076293945}],"concepts":[{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5546457171440125},{"id":"https://openalex.org/C2777566322","wikidata":"https://www.wikidata.org/wiki/Q3536635","display_name":"Sickle cell trait","level":3,"score":0.5315081477165222},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.5267093777656555},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5257490277290344},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.49568402767181396},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.49079784750938416},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.45474007725715637},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4546346068382263},{"id":"https://openalex.org/C2777799968","wikidata":"https://www.wikidata.org/wiki/Q185137","display_name":"Thalassemia","level":2,"score":0.42296379804611206},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4138495624065399},{"id":"https://openalex.org/C2777910003","wikidata":"https://www.wikidata.org/wiki/Q1707292","display_name":"Asymptomatic","level":2,"score":0.4137806296348572},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3850013315677643},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.34762492775917053},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.33509179949760437},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.23290002346038818},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.13031211495399475},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012805","descriptor_name":"Sickle Cell Trait","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017086","descriptor_name":"beta-Thalassemia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D017086","descriptor_name":"beta-Thalassemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055544","descriptor_name":"beta-Globins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1080/03630269.2021.1965620","doi":"https://doi.org/10.1080/03630269.2021.1965620","is_oa":false,"landing_page_url":"https://doi.org/10.1080/03630269.2021.1965620","pdf_url":null,"source":{"id":"https://openalex.org/S81929299","display_name":"Hemoglobin","issn_l":"0363-0269","issn":["0363-0269","1532-432X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320547","host_organization_name":"Taylor & Francis","host_organization_lineage":["https://openalex.org/P4310320547","https://openalex.org/P4310320449"],"host_organization_lineage_names":["Taylor & Francis","Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hemoglobin","raw_type":"journal-article"},{"id":"pmid:34396882","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34396882","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":"Hemoglobin","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9476000070571899,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":15,"referenced_works":["https://openalex.org/W1997103294","https://openalex.org/W2002481233","https://openalex.org/W2053602312","https://openalex.org/W2061085794","https://openalex.org/W2133899116","https://openalex.org/W2201751430","https://openalex.org/W2654493239","https://openalex.org/W2773769212","https://openalex.org/W2945556761","https://openalex.org/W2984000208","https://openalex.org/W3006794233","https://openalex.org/W3012345555","https://openalex.org/W3095710776","https://openalex.org/W3135487913","https://openalex.org/W4255555696"],"related_works":["https://openalex.org/W2069284192","https://openalex.org/W2072962785","https://openalex.org/W1983170193","https://openalex.org/W2127537900","https://openalex.org/W4415736217","https://openalex.org/W2611428550","https://openalex.org/W2987906029","https://openalex.org/W3012345555","https://openalex.org/W2055116065","https://openalex.org/W1980388191"],"abstract_inverted_index":{":":[0],"c.20A>T)":[1],"and":[2,17,21,41,54,83,120,125,176,203],"normal":[3],"Hb":[4,59,101,146,152,170,187,192,197],"A":[5],"alleles.":[6],"Although":[7,173],"sickle":[8,79],"cell":[9,80],"trait":[10,81],"is":[11],"typically":[12],"considered":[13,49],"to":[14,25,50,98,127,156,190],"be":[15,51,99,128,208],"asymptomatic":[16],"benign,":[18,183],"genetic":[19],"modifiers":[20],"mutations":[22,106,162,178,205],"can":[23],"lead":[24],"severe":[26],"clinical":[27],"complications.":[28],"In":[29,140,199],"this":[30,200],"study,":[31,143],"the":[32,36,55,58,65,115,141,174,186],"possible":[33],"pathogenicity":[34],"of":[35,67],"IVS-II-16":[37,124,175,202],"(G>C)":[38],"(HBB:":[39,44],"c.315+16G>C)":[40],"IVS-II-666":[42,126,177,204],"(C>T)":[43],"c.316-185C>T)":[45],"mutations,":[46,158],"which":[47],"are":[48,62],"neutral":[52],"polymorphisms,":[53],"association":[56],"between":[57],"S":[60,147,171,188],"mutation":[61],"presented.":[63],"To":[64],"best":[66],"our":[68,138],"knowledge,":[69],"these":[70,134,157],"polymorphisms":[71],"have":[72,87,163],"not":[73,164,207],"been":[74,88,165],"previously":[75,166,180,211],"reported":[76,167,181],"in":[77,133,168],"any":[78],"patient,":[82,148],"no":[84],"relevant":[85],"studies":[86],"conducted.":[89],"We":[90],"recently":[91],"studied":[92],"a":[93,110,144],"40-year-old":[94],"woman":[95],"(proband),":[96],"diagnosed":[97],"an":[100,151,169],"S/\u03b2-thalassemia":[102],"(\u03b2-thal)":[103],"carrier.":[104],"\u03b2-Globin":[105],"were":[107,179],"analyzed":[108],"using":[109],"DNA":[111],"sequencer":[112],"based":[113],"on":[114],"Sanger":[116],"method.":[117],"The":[118],"HbVar":[119],"ClinVar":[121],"databases":[122],"show":[123],"intronic":[129],"mutations.":[130],"However,":[131],"statements":[132],"data":[135],"banks":[136],"contradict":[137],"findings.":[139],"present":[142],"transfusion-dependent":[145,191],"behaving":[149],"as":[150,182,210],"S/\u03b2-thal":[153,193],"case":[154],"due":[155],"was":[159],"reported.":[160],"These":[161],"patient.":[172],"they":[184],"converted":[185],"phenotype":[189],"when":[194],"combined":[195],"with":[196],"S.":[198],"regard,":[201],"may":[206],"innocent,":[209],"thought.":[212]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":2},{"year":2022,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2021-08-30T00:00:00"}
