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
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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.
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