Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/50439
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dc.contributor.authorKaraer, Derya-
dc.contributor.authorŞahinoğlu, Bahtiyar-
dc.contributor.authorŞahinoğlu, Esra Pekpak-
dc.contributor.authorGürler, Abdullah I.-
dc.contributor.authorKirat, Emre-
dc.contributor.authorKaraer, Kadri-
dc.date.accessioned2023-04-08T10:00:01Z-
dc.date.available2023-04-08T10:00:01Z-
dc.date.issued2023-
dc.identifier.issn2147-2092-
dc.identifier.urihttps://doi.org/10.12996/gmj.2023.12-
dc.identifier.urihttps://hdl.handle.net/11499/50439-
dc.description.abstractObjective: Beta-thalassemia (I3-thalassemia), which is very common in southern Turkey, is an autosomal recessive genetic disease caused by more than 400 mutations in the Beta-globin (HBB) gene. We aimed to investigate the beta thalassemia mutation profile in this region and contribute to treatment strategies with the study we conducted from patients who applied to our Genetic Diagnosis Center from Gaziantep and its surrounding southeast Anatolian provİnces. Method: In the study, HBB gene mutations were investigated by DNA sequence analysis in 313 unrelated patients who applied to our center. 41% of the patients included in the study were from Syrian migrant families. Results: A total of 32 different beta globin mutations were detected. The most common mutations are: IVS-I-110 G>A (HBB: c.93-21G>A) 20.65%, Codon 39 C>T (HBB: c.118C>T) 8.63%, IVS I-6 T>C (HBB: c.92+6T>C) 7.10%, IVS I-1 G>A (HBB: c.92+1G>A), 6.88%, IVS II-1 G>A (HBB: c.315+1G>A) 6.24%, Codon 6 (GAG>GTG) (HbS) (HBB: c.20A>T) 4.52%, CAP +20 C>T (HBB: c.-31C>T) 4.52%, Codon 8 (-AA) (HBB: c.25_26del) 4.30%,-30 (T>A) (HBB: c.-80T>A) 4.09%, IVS II-745 C>G (HBB: c.316-106C>G) 3.87%. We also detected a new variation (HBB: c.92+56G>A) that was not reported before, and six different beta globin gene mutations (HBB: c.90C>T, HBB: c.47G>A, HBB: c. 93-22_95del, HBB:c.30dup, HBB: c.180G>A , HBB: c.316-30A>C) not previously reported in Turkey. Four of these mutations were detected in Syrian patients (c.90C>T, c.47G>A, c.93-22_95del, c.30dup). Conclusion: Our study reveals that the mutations that cause beta thalassemia and hemoglobinopathies in the Southeast Anatolia region, which includes Gaziantep and its surrounding provİnces, are quite diverse and show some differences compared to other regions.en_US
dc.language.isoenen_US
dc.publisherGazi Univ, Fac Meden_US
dc.relation.ispartofGazi Medical Journalen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectThalassemiaen_US
dc.subjectBeta-Globin geneen_US
dc.subjectMutationsen_US
dc.subjectTurkeyen_US
dc.subjectPrenatal-Diagnosisen_US
dc.subjectRegionen_US
dc.subjectHemoglobinopathiesen_US
dc.subjectUniversityen_US
dc.titleThe Molecular Spectrum of Beta Thalassemia Mutations in Southeastern, Turkeyen_US
dc.typeArticleen_US
dc.identifier.volume34en_US
dc.identifier.issue1en_US
dc.identifier.startpage63en_US
dc.identifier.endpage67en_US
dc.departmentPamukkale Universityen_US
dc.identifier.doi10.12996/gmj.2023.12-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.authorwosidKIRAT, Emre/HNP-1209-2023-
dc.identifier.scopus2-s2.0-85151038149en_US
dc.identifier.wosWOS:000908834300012en_US
dc.institutionauthor-
dc.identifier.scopusqualityQ4-
item.cerifentitytypePublications-
item.languageiso639-1en-
item.grantfulltextopen-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.fulltextWith Fulltext-
item.openairetypeArticle-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
Appears in Collections:Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
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