PREVALENCE AND MUTATIONS OF ?-THALASSEMIA TRAIT AND ABNORMAL HEMOGLOBINS IN PREMARITAL SCREENING IN CANAKKALE PROVINCE, TURKEY

Basit Öğe Kaydı
dc.authoridTekin, Murat/0000-0001-6841-3045
dc.contributor.authorUludag, A.
dc.contributor.authorUysal, A.
dc.contributor.authorUludag, A.
dc.contributor.authorErtekin, Y. H.
dc.contributor.authorTekin, M.
dc.contributor.authorKutuk, B.
dc.contributor.authorSılan, Fatma
dc.date.accessioned2025-01-27T20:52:28Z
dc.date.available2025-01-27T20:52:28Z
dc.date.issued2016
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractThe prevalence of beta-thalassemia (beta-thal) carriers in Turkey varies according to region but in general it is 2.0%. Canakkale is a city in the Aegean region of Turkey but no study about beta-thal frequency in Canakkale has been published to date. In this study, we aimed to investigate the frequency of beta-thal mutations in this province. A total of 4452 couples (8904 individuals) applied for premarital thalassemia scans at the Canakkale State Health Directorate Laboratory between January 2008 and June 2012 and scanning was done with high performance liquid chromatography (HPLC). Of 125 beta-thal carriers seen at the Medical Genetics Clinic, Canakkale Onsekiz Mart University, Canakkale, Turkey, for genetic counseling, 46 participated in the study. The remaining 79 patients could not be reached. The prevalence for beta-thal carriers in Canakkale was identified as 1.4% (125/8904). One couple were both beta-thal carriers. beta-Globin gene analysis of 46 carriers found the total frequency of the three most common mutations was 45.6%. These mutations were found to be HBB: c. 93-21G>A [IVS-I-110 (G>A)], 26.08% (12/46); HBB: c. 17_ 18delCT [codon 5 (-CT)], 10.85% (5/46); HBB: c. 20delA [codon 6 (-A)] 8.69% (4/46). This is the first report on the frequency and mutation profiles of beta-thal for Canakkale. The incidence of beta-thal carriers in Canakkale is below the average for Turkey. The most frequently observed mutation profile and rate of beta-thal in our region is different from the other regions of Turkey.
dc.identifier.doi10.1515/bjmg-2016-0004
dc.identifier.endpage33
dc.identifier.issn1311-0160
dc.identifier.issue1
dc.identifier.pmid27785405
dc.identifier.scopus2-s2.0-84983428718
dc.identifier.scopusqualityQ4
dc.identifier.startpage29
dc.identifier.urihttps://doi.org/10.1515/bjmg-2016-0004
dc.identifier.urihttps://hdl.handle.net/20.500.12428/25774
dc.identifier.volume19
dc.identifier.wosWOS:000380756300004
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherMacedonian Acad Sciences Arts
dc.relation.ispartofBalkan Journal of Medical Genetics
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20250125
dc.subjectAbnormal hemoglobin (Hb)
dc.subjectbeta-Thalassemia (beta-thal)
dc.subjectPremarital screening
dc.subjectPrevalence
dc.titlePREVALENCE AND MUTATIONS OF ?-THALASSEMIA TRAIT AND ABNORMAL HEMOGLOBINS IN PREMARITAL SCREENING IN CANAKKALE PROVINCE, TURKEY
dc.typeArticle

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu