Prevalence and mutations of thalassemia trait and abnormal hemoglobins in premarital screening in Çanakkale province Turkey
Yazarlar (7)
Prof. Dr. Ahmet Uludağ Türkiye
Ahmet Uysal
Doç. Dr. Yusuf Haydar Ertekin Çanakkale Onsekiz Mart Üniversitesi, Türkiye
Murat Tekin Çanakkale Onsekiz Mart Üniversitesi, Türkiye
Beyza Kütük
Prof. Dr. Fatma Sılan Çanakkale Onsekiz Mart Üniversitesi, Türkiye
Prof. Dr. Öztürk ÖZDEMİR Çanakkale Onsekiz Mart Üniversitesi, Türkiye
| Makale Türü |
Özgün Makale
(SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale)
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| Dergi Adı | Balkan Journal of Medical Genetics (Q4) | ||
| Dergi ISSN | 1311-0160 Wos Dergi Scopus Dergi | ||
| Dergi Tarandığı Indeksler | SCI | ||
| Makale Dili | İngilizce | Basım Tarihi | 01-2016 |
| Kabul Tarihi | – | Yayınlanma Tarihi | 01-06-2016 |
| Cilt / Sayı / Sayfa | 19 / 1 / 29–33 | DOI | 10.1515/bjmg-2016-0004 |
| Makale Linki | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026277/ | ||
| UAK Araştırma Alanları |
Tıbbi Genetik
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| Özet |
| Abstract The prevalence of β-thalassemia (β-thal) carriers in Turkey varies according to region but in general it is 2.0%. Çanakkale is a city in the Aegean region of Turkey but no study about β-thal frequency in Çanakkale has been published to date. In this study, we aimed to investigate the frequency of β-thal mutations in this province. A total of 4452 couples (8904 individuals) applied for premarital thalassemia scans at the Çanakkale State Health Directorate Laboratory between January 2008 and June 2012 and scanning was done with high performance liquid chromatography (HPLC). Of 125 β-thal carriers seen at the Medical Genetics Clinic, Çanakkale Onsekiz Mart University, Çanakkale, Turkey, for genetic counseling, 46 participated in the study. The remaining 79 patients could not be reached. The prevalence for β-thal carriers in Çanakkale was identified as 1.4% (125/8904). One couple were both β-thal carriers. β-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 β-thal for Çanakkale. The incidence of β-thal carriers in Çanakkale is below the average for Turkey. The most frequently observed mutation profile and rate of β-thal in our region is different from the other regions of Turkey. |
| Anahtar Kelimeler |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları |