{"id":"https://openalex.org/W1998225500","doi":"https://doi.org/10.1515/pterid-2013-0034","title":"Identification of four common \u03b1-thalassemia gene deletions among a group with hemoglobinopathies in S\u00e9tif population, Algeria","display_name":"Identification of four common \u03b1-thalassemia gene deletions among a group with hemoglobinopathies in S\u00e9tif population, Algeria","publication_year":2013,"publication_date":"2013-11-18","ids":{"openalex":"https://openalex.org/W1998225500","doi":"https://doi.org/10.1515/pterid-2013-0034","mag":"1998225500"},"language":"en","primary_location":{"id":"doi:10.1515/pterid-2013-0034","doi":"https://doi.org/10.1515/pterid-2013-0034","is_oa":true,"landing_page_url":"https://doi.org/10.1515/pterid-2013-0034","pdf_url":"https://www.degruyter.com/document/doi/10.1515/pterid-2013-0034/pdf","source":{"id":"https://openalex.org/S98075812","display_name":"Pteridines","issn_l":"0933-4807","issn":["0933-4807","2195-4720"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","norway-1","poland-20","russia-white-list-4"],"host_organization":"https://openalex.org/P4310320322","host_organization_name":"De Gruyter Open","host_organization_lineage":["https://openalex.org/P4310320322","https://openalex.org/P4310313990"],"host_organization_lineage_names":["De Gruyter Open","De Gruyter"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"pteridines","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://www.degruyter.com/document/doi/10.1515/pterid-2013-0034/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5021349571","display_name":"Bakhouche Houcher","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I40193446","display_name":"University Ferhat Abbas of Setif","ror":"https://ror.org/02rzqza52","country_code":"DZ","type":"education","lineage":["https://openalex.org/I40193446"]}],"countries":["DZ"],"is_corresponding":true,"raw_author_name":"Bakhouche Houcher","raw_affiliation_strings":["Department of Biology, University of S\u00e9tif, S\u00e9tif 19000, Algeria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology, University of S\u00e9tif, S\u00e9tif 19000, Algeria","institution_ids":["https://openalex.org/I40193446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106266410","display_name":"Ay\u015fenur \u00d6zt\u00fcrk","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ay\u015fenur \u00d6zt\u00fcrk","raw_affiliation_strings":["Pediatric Molecular Genetics, Ankara University Medical School, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Molecular Genetics, Ankara University Medical School, Ankara, Turkey","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033029945","display_name":"Samia Begag","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I40193446","display_name":"University Ferhat Abbas of Setif","ror":"https://ror.org/02rzqza52","country_code":"DZ","type":"education","lineage":["https://openalex.org/I40193446"]}],"countries":["DZ"],"is_corresponding":false,"raw_author_name":"Samia Begag","raw_affiliation_strings":["Life and Nature Sciences, University of S\u00e9tif, S\u00e9tif, Algeria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Life and Nature Sciences, University of S\u00e9tif, S\u00e9tif, Algeria","institution_ids":["https://openalex.org/I40193446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004221764","display_name":"Zahira Houcher","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I40193446","display_name":"University Ferhat Abbas of Setif","ror":"https://ror.org/02rzqza52","country_code":"DZ","type":"education","lineage":["https://openalex.org/I40193446"]}],"countries":["DZ"],"is_corresponding":false,"raw_author_name":"Zahira Houcher","raw_affiliation_strings":["Life and Nature Sciences, University of S\u00e9tif, S\u00e9tif, Algeria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Life and Nature Sciences, University of S\u00e9tif, S\u00e9tif, Algeria","institution_ids":["https://openalex.org/I40193446"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5082504401","display_name":"Nejat Akar","orcid":"https://orcid.org/0000-0001-8228-8885","observed_orcids":["https://orcid.org/0000-0001-8228-8885"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Nejat Akar","raw_affiliation_strings":["Pediatric Molecular Genetics, Ankara University Medical School, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Molecular Genetics, Ankara University Medical School, Ankara, Turkey","institution_ids":["https://openalex.org/I149218525"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5021349571"],"corresponding_institution_ids":["https://openalex.org/I40193446"],"apc_list":{"value":1600,"currency":"EUR","value_usd":1808},"apc_paid":{"value":1600,"currency":"EUR","value_usd":1808},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0909261,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"24","issue":"3-4","first_page":"251","last_page":"255"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9994999766349792,"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":0.9994999766349792,"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/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"}}],"keywords":[{"id":"https://openalex.org/keywords/alpha-thalassemia","display_name":"alpha-thalassemia","score":0.9660000205039978},{"id":"https://openalex.org/keywords/alpha-globin-gene-deletion","display_name":"alpha-globin gene deletion","score":0.9810000061988831},{"id":"https://openalex.org/keywords/hemoglobinopathies","display_name":"hemoglobinopathies","score":0.8579999804496765},{"id":"https://openalex.org/keywords/allele-frequency","display_name":"allele frequency","score":0.902999997138977},{"id":"https://openalex.org/keywords/algerian-population","display_name":"Algerian population","score":0.8109999895095825},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.8180000185966492}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6825462579727173},{"id":"https://openalex.org/C2779668550","wikidata":"https://www.wikidata.org/wiki/Q1642147","display_name":"Hemoglobinopathy","level":3,"score":0.6687332391738892},{"id":"https://openalex.org/C2777799968","wikidata":"https://www.wikidata.org/wiki/Q185137","display_name":"Thalassemia","level":2,"score":0.657617449760437},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.6507458090782166},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.6313130855560303},{"id":"https://openalex.org/C90583042","wikidata":"https://www.wikidata.org/wiki/Q1952456","display_name":"Multiplex polymerase chain reaction","level":4,"score":0.61676025390625},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6004732251167297},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5768353343009949},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5185533165931702},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.4941878616809845},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4896991550922394},{"id":"https://openalex.org/C2777940137","wikidata":"https://www.wikidata.org/wiki/Q3616632","display_name":"Beta thalassemia","level":3,"score":0.4764723777770996},{"id":"https://openalex.org/C17757408","wikidata":"https://www.wikidata.org/wiki/Q4135516","display_name":"genomic DNA","level":3,"score":0.47549447417259216},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4544220268726349},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.425446480512619},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2640535831451416},{"id":"https://openalex.org/C2776175824","wikidata":"https://www.wikidata.org/wiki/Q1145668","display_name":"Hemolytic anemia","level":2,"score":0.20009630918502808},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.06865707039833069},{"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/pterid-2013-0034","doi":"https://doi.org/10.1515/pterid-2013-0034","is_oa":true,"landing_page_url":"https://doi.org/10.1515/pterid-2013-0034","pdf_url":"https://www.degruyter.com/document/doi/10.1515/pterid-2013-0034/pdf","source":{"id":"https://openalex.org/S98075812","display_name":"Pteridines","issn_l":"0933-4807","issn":["0933-4807","2195-4720"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","norway-1","poland-20","russia-white-list-4"],"host_organization":"https://openalex.org/P4310320322","host_organization_name":"De Gruyter Open","host_organization_lineage":["https://openalex.org/P4310320322","https://openalex.org/P4310313990"],"host_organization_lineage_names":["De Gruyter Open","De Gruyter"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"pteridines","raw_type":"journal-article"},{"id":"pmh:oai:doaj.org/article:5bcc46fbe35c4f188a22c61711ddd569","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/5bcc46fbe35c4f188a22c61711ddd569","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":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Pteridines, Vol 24, Iss 3-4, Pp 251-255 (2013)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1515/pterid-2013-0034","doi":"https://doi.org/10.1515/pterid-2013-0034","is_oa":true,"landing_page_url":"https://doi.org/10.1515/pterid-2013-0034","pdf_url":"https://www.degruyter.com/document/doi/10.1515/pterid-2013-0034/pdf","source":{"id":"https://openalex.org/S98075812","display_name":"Pteridines","issn_l":"0933-4807","issn":["0933-4807","2195-4720"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","norway-1","poland-20","russia-white-list-4"],"host_organization":"https://openalex.org/P4310320322","host_organization_name":"De Gruyter Open","host_organization_lineage":["https://openalex.org/P4310320322","https://openalex.org/P4310313990"],"host_organization_lineage_names":["De Gruyter Open","De Gruyter"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"pteridines","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"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/F4320309593","display_name":"Utah Agricultural Experiment Station","ror":"https://ror.org/00h6set76"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1998225500.pdf","grobid_xml":"https://content.openalex.org/works/W1998225500.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2101116005","https://openalex.org/W4409900581","https://openalex.org/W1934099659","https://openalex.org/W2776270756","https://openalex.org/W4404685049","https://openalex.org/W3045125112","https://openalex.org/W4390231488","https://openalex.org/W2901011314","https://openalex.org/W2075062829","https://openalex.org/W2027585523"],"abstract_inverted_index":{"Abstract":[0],"\u03b1-Thalassemia":[1],"(\u03b1-thal)":[2],"is":[3,15,133,155],"one":[4],"of":[5,23,36,83,153,157,175],"the":[6,12,18,33,43,79,102,106,110,115,123,137,143,149,169,180],"most":[7,107],"common":[8],"genetic":[9],"disorders":[10],"in":[11,39,46,64,159,179],"world.":[13],"It":[14],"characterized":[16],"by":[17,95,114],"absence":[19],"or":[20],"reduced":[21],"expression":[22],"\u03b1-globin":[24,84],"genes.":[25],"This":[26],"study":[27],"was":[28,70,93,126],"carried":[29,71],"out":[30,72],"to":[31,74],"evaluate":[32],"allelic":[34],"frequency":[35,132],"\u03b1-thal":[37,80,158],"defects":[38],"a":[40],"patient":[41],"for":[42,136,142,148,168],"first":[44],"time":[45],"S\u00e9tif":[47,57],"(Algeria).":[48],"One":[49],"hundred":[50],"and":[51,91,119,145,166,172],"two":[52],"patients":[53],"with":[54],"hemoglobinopathies":[55],"from":[56],"region,":[58],"Algeria,":[59],"presenting":[60],"thalassemia":[61],"were":[62,109],"included":[63],"this":[65],"study.":[66],"Genomic":[67],"DNA":[68],"isolation":[69],"according":[73],"standard":[75],"methods.":[76],"For":[77],"identifying":[78],"genotype,":[81],"investigation":[82],"gene":[85,177],"deletions":[86,104],"(-\u03b13.7,":[87],"-\u03b14.2,":[88],"-":[89,116],"MED":[90,117,144],"-\u03b120.5)":[92],"performed":[94],"using":[96],"multiplex-polymerase":[97],"chain":[98],"reaction":[99],"(PCR).":[100],"Among":[101],"three":[103],"found,":[105],"mutations":[108,154,178],"-\u03b13.7":[111],"(10.78%),":[112],"followed":[113],"(5.88%)":[118],"-\u03b120.5":[120],"(0.98%),":[121],"whereas":[122],"-\u03b14.2":[124],"deletion":[125],"not":[127],"observed":[128],"(0.0%).":[129],"The":[130],"allele":[131],"0.054":[134],"(11/204)":[135],"3.7":[138],"deletion,":[139],"0.029":[140],"(6/204)":[141],"0.005":[146],"(1/204)":[147],"20.5.":[150],"Molecular":[151],"heterogeneity":[152],"typical":[156],"Algeria.":[160],"Our":[161],"findings":[162],"will":[163],"be":[164],"valuable":[165],"essential":[167],"molecular":[170],"diagnosis":[171],"prevention":[173],"strategies":[174],"hemoglobinopathy":[176],"Algerian":[181],"population.":[182]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}