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

INTRODUCTION

β-Thalassemia (β-thal) is an autosomal recessive hereditary anemia characterized by defective or insufficient globin chain synthesis in the hemoglobin (Hb) molecule [1]. The rate of β-thal carriers in Turkey is generally 2.0%. In some states in the Aegean region the rate is as high as 5.0%. Some states in the Mediterranean region have rates of up to 10.0% [2-6]. Frequency of marriages among close relatives and a high birth rate, are the causes of the greater than expected births of children with β-thal in Turkey. The disease follows a wide spectrum of progression from slightly clinical β-thal minor to transfusion-dependent β-thal major (β-TM). In the Turkish population, there are more than 30 different mutations described for β-thal; this broad molecular variety, the broad molecular definition of the disease, significantly hampers strategies and programs to prevent the disease [2,4-6]. There is no report in the scientific literature on the prevalence or mutation profile of β-thal for the city Çanakkale, which is in the Aegean region of Turkey. As a result, it was necessary to research the frequently observed β-thal mutations and determine the β-thal mutation profile of the region. The primary aim of our study was to determine the frequency of β-thal in the premarital population and reveal the mutation types and allele frequencies. Thus, the most common genetic mutations in the Çanakkale region would be identified, and individuals who are patients and/or carriers would be provided with genetic counseling based on identified mutations. Additionally, the identified mutation may form the infrastructure for genetic scanning/ screening programs to be developed specifically for the region.

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