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

RESULTS

In Çanakkale, premarital thalassemia scanning was completed for a total of 4452 couples (8904 individuals) between January 2008 and June 2012. The prevalence for β-thal carriers was identified as 1.4% (125/8904), while the prevalence for sickle cell anemia carriers was 0.06% (5/8904). 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 45.65%. 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) (Table 1). Unfortunately, the couple who were identified to both be β-thal carriers on premarital scanning did not have any genetic counseling. Their first child was born with β-TM and died at 2 years of age. They were referred to our clinic for genetic counseling in the 14th week of their second pregnancy. The couple were counseled and a series of genetic analyses were performed. There was no consanguinity but they were from the same village. Interestingly, the couple both had a deletion of the adenine nucleotide at codon 6 (Figure 1). Their β-globin gene series were exactly the same. To prevent the possibility of an improper operation, chimerism analysis was performed and the blood samples were proven not to be from a single person. In the 16th week of pregnancy, PND was performed with amniocentesis. After the procedure, the fetus was found to be homozygous for a normal β-globin gene.

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