{"id":"https://openalex.org/W4394564472","doi":"https://doi.org/10.1159/000538300","title":"Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey","display_name":"Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey","publication_year":2024,"publication_date":"2024-04-08","ids":{"openalex":"https://openalex.org/W4394564472","doi":"https://doi.org/10.1159/000538300","pmid":"https://pubmed.ncbi.nlm.nih.gov/39359944","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/11444704"},"language":"en","primary_location":{"id":"doi:10.1159/000538300","doi":"https://doi.org/10.1159/000538300","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000538300","pdf_url":null,"source":{"id":"https://openalex.org/S150607185","display_name":"Molecular Syndromology","issn_l":"1661-8769","issn":["1661-8769","1661-8777"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","norway-1","poland-70","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Syndromology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11444704/pdf/msy-2024-0015-0005-538300.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5034839378","display_name":"Hatice Ko\u00e7ak Eker","orcid":"https://orcid.org/0000-0003-2735-6739","observed_orcids":["https://orcid.org/0000-0003-2735-6739"]},"institutions":[{"id":"https://openalex.org/I4405257176","display_name":"Konya City Hospital","ror":"https://ror.org/04ze00805","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4405257176"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Hatice Kocak Eker","raw_affiliation_strings":["Department of Medical Genetics, Konya City Hospital, Konya, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Konya City Hospital, Konya, Turkey","institution_ids":["https://openalex.org/I4405257176"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5017184594","display_name":"\u00d6zg\u00fcr Balasar","orcid":"https://orcid.org/0000-0002-2945-9355","observed_orcids":["https://orcid.org/0000-0002-2945-9355"]},"institutions":[{"id":"https://openalex.org/I4405257176","display_name":"Konya City Hospital","ror":"https://ror.org/04ze00805","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4405257176"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ozgur Balasar","raw_affiliation_strings":["Department of Medical Genetics, Konya City Hospital, Konya, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Konya City Hospital, Konya, Turkey","institution_ids":["https://openalex.org/I4405257176"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4405257176"],"apc_list":null,"apc_paid":null,"fwci":1.0897,"has_fulltext":true,"cited_by_count":3,"citation_normalized_percentile":{"value":0.7325662,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":"15","issue":"5","first_page":"362","last_page":"370"},"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/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"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/beta-thalassemia","display_name":"beta-thalassemia","score":0.9959999918937683},{"id":"https://openalex.org/keywords/beta-globin-gene","display_name":"beta-globin gene","score":0.8339999914169312},{"id":"https://openalex.org/keywords/beta-globin-variant","display_name":"beta-globin variant","score":0.8360000252723694},{"id":"https://openalex.org/keywords/variant-spectrum","display_name":"variant spectrum","score":0.9340000152587891},{"id":"https://openalex.org/keywords/novel-variants","display_name":"novel variants","score":0.7870000004768372},{"id":"https://openalex.org/keywords/thalassemia-major","display_name":"thalassemia major","score":0.843999981880188},{"id":"https://openalex.org/keywords/thalassemia-minor","display_name":"thalassemia minor","score":0.9990000128746033},{"id":"https://openalex.org/keywords/hemoglobin-variants","display_name":"hemoglobin variants","score":0.9369999766349792},{"id":"https://openalex.org/keywords/turkish-patients","display_name":"Turkish patients","score":0.5699999928474426},{"id":"https://openalex.org/keywords/syrian-patients","display_name":"Syrian patients","score":0.9739999771118164},{"id":"https://openalex.org/keywords/variant-interpretation","display_name":"variant interpretation","score":0.3930000066757202}],"concepts":[{"id":"https://openalex.org/C2777940137","wikidata":"https://www.wikidata.org/wiki/Q3616632","display_name":"Beta thalassemia","level":3,"score":0.7012427449226379},{"id":"https://openalex.org/C2777799968","wikidata":"https://www.wikidata.org/wiki/Q185137","display_name":"Thalassemia","level":2,"score":0.575087308883667},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4889942407608032},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4777338206768036},{"id":"https://openalex.org/C2776174256","wikidata":"https://www.wikidata.org/wiki/Q830842","display_name":"BETA (programming language)","level":2,"score":0.446471631526947},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.421662300825119},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.12257078289985657},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1159/000538300","doi":"https://doi.org/10.1159/000538300","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000538300","pdf_url":null,"source":{"id":"https://openalex.org/S150607185","display_name":"Molecular Syndromology","issn_l":"1661-8769","issn":["1661-8769","1661-8777"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","norway-1","poland-70","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Syndromology","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:10768185","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11444704","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11444704/pdf/msy-2024-0015-0005-538300.pdf","source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:11444704","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11444704","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Mol Syndromol","raw_type":"Text"},{"id":"pmid:39359944","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39359944","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":"Molecular syndromology","raw_type":"Journal Article"}],"best_oa_location":{"id":"pmh:oai:europepmc.org:10768185","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11444704","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11444704/pdf/msy-2024-0015-0005-538300.pdf","source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","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":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4394564472.pdf","grobid_xml":"https://content.openalex.org/works/W4394564472.grobid-xml"},"referenced_works_count":27,"referenced_works":["https://openalex.org/W1969608199","https://openalex.org/W1971705093","https://openalex.org/W1994373194","https://openalex.org/W2003873813","https://openalex.org/W2008744489","https://openalex.org/W2025547160","https://openalex.org/W2034952407","https://openalex.org/W2044573154","https://openalex.org/W2050575017","https://openalex.org/W2093703171","https://openalex.org/W2114517093","https://openalex.org/W2120877253","https://openalex.org/W2142005090","https://openalex.org/W2145330631","https://openalex.org/W2149244859","https://openalex.org/W2255010547","https://openalex.org/W2332572455","https://openalex.org/W2589779391","https://openalex.org/W2606186610","https://openalex.org/W2796700729","https://openalex.org/W2802703680","https://openalex.org/W2998363306","https://openalex.org/W3149478877","https://openalex.org/W3157931732","https://openalex.org/W3168778816","https://openalex.org/W3212762538","https://openalex.org/W4310886498"],"related_works":["https://openalex.org/W7221400776","https://openalex.org/W4409923830","https://openalex.org/W3216366266","https://openalex.org/W2091931900","https://openalex.org/W1994373194","https://openalex.org/W7166156472","https://openalex.org/W2599085135","https://openalex.org/W2034815246","https://openalex.org/W2968433087","https://openalex.org/W3134073671"],"abstract_inverted_index":{"Introduction:":[0],"Beta":[1],"thalassemia":[2,108,113,126],"is":[3],"a":[4,61,72,202],"serious":[5],"disease":[6],"for":[7,93],"which":[8,63],"mutation-based":[9],"diagnostic":[10,196],"and":[11,35,70,110,127,137,154,163],"screening":[12],"tests":[13,18],"are":[14,19],"readily":[15],"available.":[16],"These":[17],"based":[20],"on":[21],"specific":[22],"variant":[23,48,147,174,186,204],"profile":[24],"in":[25,50,54,68,95,149,161,166,175],"the":[26,29,38,47,51,141,144,152,171],"regions":[27],"of":[28,40,75,85,88,104,119,182],"testing":[30],"centers.":[31],"De":[32],"novo":[33],"mutations":[34],"migration":[36],"change":[37],"distribution":[39,131],"these":[41,105],"variants.":[42],"We":[43,169],"aim":[44],"to":[45,190],"update":[46],"spectrum":[49,187],"HBB":[52,185],"gene":[53,98],"our":[55,199],"region.":[56],"In":[57],"addition,":[58],"we":[59],"present":[60],"variant,":[62],"not":[64,207],"been":[65],"detected":[66,170],"before":[67],"Turkey,":[69],"also":[71],"changed":[73],"classification":[74],"another":[76],"variant.":[77],"Methods:":[78],"This":[79],"study":[80,200],"includes":[81],"142":[82],"patients":[83,106],"(46":[84],"Turkish,":[86],"96":[87],"Syrian)":[89],"who":[90],"were":[91,122,159],"investigated":[92],"defects":[94],"their":[96],"\u03b2-globin":[97],"with":[99],"Sanger":[100],"sequencing.":[101],"Clinically,":[102],"52":[103],"had":[107,112],"major,":[109],"90":[111],"minor.":[114],"Results:":[115],"Twenty":[116],"three":[117],"types":[118],"pathogenic":[120],"variants":[121,158],"identified":[123],"causing":[124],"beta":[125],"abnormal":[128],"hemoglobins.":[129],"Variant":[130],"has":[132],"differed":[133],"considerably":[134],"between":[135],"Turkish":[136,150],"Syrian":[138,167,177],"patients.":[139,168,178],"While":[140],"IVSI-110G>A":[142],"was":[143,206],"most":[145],"prevalent":[146],"(41.1%)":[148],"patients,":[151],"IVSII-1G>A":[153],"Codon":[155],"39":[156],"(C>T)":[157],"found":[160],"22%":[162],"21.3%,":[164],"respectively,":[165],"novel":[172,203],"c.31_32insT":[173],"3":[176],"Conclusion:":[179],"The":[180],"detection":[181],"updated":[183],"regional":[184],"will":[188],"contribute":[189],"future":[191],"prenatal":[192],"and/or":[193],"postnatal":[194],"molecular":[195],"tests.":[197],"Also,":[198],"presents":[201],"that":[205],"previously":[208],"reported.":[209]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2024-04-09T00:00:00"}