?-Globin Gene Mutations in Pediatric Patients with ?-Thalassemia in the Region of Cukurova, Turkey

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dc.authoridSEYDEL, GONUL SEYDA/0000-0001-9317-0719
dc.authoridGuzelgul, Figen/0000-0002-2796-9511
dc.contributor.authorGuzelgul, Figen
dc.contributor.authorSeydel, G. Seyda
dc.contributor.authorAksoy, Kiymet
dc.date.accessioned2024-11-07T13:34:12Z
dc.date.available2024-11-07T13:34:12Z
dc.date.issued2020
dc.departmentNiğde Ömer Halisdemir Üniversitesi
dc.description.abstractbeta-Thalassemia (beta-thal) is one of the most common genetic disorders in Turkey. In this study, we investigated the mutations and frequency of beta-thal at the molecular level in pediatric beta-thal patients in the cukurova region. The beta-thal mutations of 52 cases were analyzed. An automated blood cell counter was used for hematological data. Cellulose acetate electrophoresis and high performance liquid chromatography (HPLC) methods were used for hemoglobin (Hb) typing. Amplification refractory mutation system (ARMS), restriction fragment length polymorphism (RFLP), gap-polymerase chain reaction (gap-PCR) and DNA sequencing analysis methods were used to determine genomic features. In this study, we found that 36 subjects carried homozygous mutations [IVS-I-110 (G>A) (HBB: c.93-21G>A) (58.3%), codon 8 (-AA)(HBB: c.25_26delAA) (5.6%), -30 (T>A) (HBB: c.-80T>A) (5.6%), IVS-I-6 (T>C) (HBB: c.92+6T>C) (5.6%) and IVS-II-1 (G>A) (HBB: c.315+1G>A) (5.6%)]. We found that 13 subjects carried compound heterozygosities for IVS-I-110/IVS-I-6 (15.4%) and IVS-I-110/frameshift codon (FSC) 44 (-C) (HBB: c.135delC) (15.4%). We observed that the Syrian subject also carried a compound heterozygosity for IVS-I-6/IVS-I-25 (-25 bp) (HBB: c.93_21del). We determined that the most frequently observed beta-thal mutation in the cukurova region, where various types of hemoglobinopathies have been observed, is the IVS-I-110 mutation. As the prevalence of the disease will affect the region where the immigrant population is dense, population screening and prenatal diagnosis (PND) should be increased and the public should be made aware of the consequences.
dc.description.sponsorshipState Planning Organization (SPO), Ankara, Turkey [2005K120320-E]; Cukurova University Research Fund, Adana, Turkey [FBE2014D1]
dc.description.sponsorshipThis study was funded from studies titled 'Establishing the infrastructure of the new methods to be used in the diagnosis of hemoglobinopathies: microarray and bioinformatics' Project no: 2005K120320-E by The State Planning Organization (SPO), Ankara, Turkey and 'Determination of proteomic and genomic features for hemoglobinopathies' Project no: FBE2014D1 by the Cukurova University Research Fund, Adana, Turkey.
dc.identifier.doi10.1080/03630269.2020.1792489
dc.identifier.endpage253
dc.identifier.issn0363-0269
dc.identifier.issn1532-432X
dc.identifier.issue4
dc.identifier.pmid32664780
dc.identifier.scopus2-s2.0-85088129735
dc.identifier.scopusqualityQ3
dc.identifier.startpage249
dc.identifier.urihttps://doi.org/10.1080/03630269.2020.1792489
dc.identifier.urihttps://hdl.handle.net/11480/15854
dc.identifier.volume44
dc.identifier.wosWOS:000548952800001
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherTaylor & Francis Ltd
dc.relation.ispartofHemoglobin
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_20241106
dc.subjectbeta-Thalassemia (beta-thal)
dc.subjectDNA sequencing
dc.subjectmutation analysis
dc.subjectprenatal diagnosis (PND)
dc.title?-Globin Gene Mutations in Pediatric Patients with ?-Thalassemia in the Region of Cukurova, Turkey
dc.typeArticle

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