Balkan Journal of Medical Genetics

PREVALENCE AND MUTATIONS OF β-THALASSEMIA TRAIT AND ABNORMAL HEMOGLOBINS IN PREMARITAL SCREENING IN ÇANAKKALE PROVINCE, TURKEY
Uludağ A, Uysal A, Uludağ A, Ertekin YH, Tekin M, Kütük B, Sılan F, Özdemir Ö
*Corresponding Author: Associate Professor Ahmet Uysal, Department of Obstetrics and Gynecology, Çanakkale Onsekiz Mart University, Terzioglu Yerleskesi 17100, Çanakkale, Turkey. Tel: +90-533-263- 5540. Fax: +90-028-626-3597. E-mail: drahmetuysal@hotmail.com
page: 29

MATERIALS AND METHODS

This study received permission from the Çanakkale Onsekiz Mart University Medical Faculty Ethics Committee. 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 Hb fractionation was performed using ion exchange high performance liquid chromatography (HPLC) with the Tosoh G8 HPLC Analyzer (Tosoh Bioscience, Tokyo, Japan). Of 125 β-thal carriers directed to the Department of 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. After being diagnosed, the patients were counseled about the mutations and prenatal diagnosis (PND) choices. After carriers signed a patient consent form, 2 mL peripheral blood was taken in a vacutainer containing EDTA as anticoagulant. DNA isolation of the samples was completed with the spin column method (QIAamp DNA Blood Mini Kit; Qiagen GmbH, Hilden, Germany). The Sanger and pyrosequencing methods were performed for all three exons of the β-globin gene with the capillary electrophoresis ABI PRISM® 3130 Genetic Analyzer (Applied Biosystems, Foster City, CA, USA) and PyroMark Q24 Advanced (Qiagen) after polymerase chain reaction (PCR) amplification of all exons with specific primers with GeneAmp ® PCR system 9700 (Applied Bio-systems). The PCR was performed with a final volume of 40 μL including 250 nM primers, 0.2 mM of each deoxynucleotides, 2 mM MgCl2, 1 U of Taq Polymerase (Taq DNA Polymerase, 5 U/μL; Roche Life Science, Penzberg, Upper Bavaria, Germany) and 100 ng of sample DNA. Sequence results were evaluated with SeqScape® software (Applied Biosystems), and the identified mutations were checked in both the National Center for Biotechnology Information (NCBI; Rockville Pike, Bethesda, MD, USA) blast and Ensembl databases. To statistically analyze the results, the Statistical Package for the Social Sciences (SPSS) version 16.0 (SPSS Inc., Chicago, IL, USA) was used.

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