Hemoglobinopathies in the Çukurova Region and Neighboring Provinces

Abstract

To contribute to the creation of a mutation map of the region, we aimed to determine the mutation spectrum of thalassemias and abnormal hemoglobins (Hbs) in the Çukurova region and surrounding provinces. In this study, a total of 8135 samples from Adana, Hatay, Mersin, Konya and Kayseri provinces between 1993 and 2014 were analyzed. Complete blood cell (CBC) counts and Hb typing were carried out using automatic cell counters, cellulose acetate membrane electrophoresis and high performance liquid chromatography (HPLC), respectively. For the molecular analyses, genomic DNA was extracted using both manual and automated DNA extraction devices. Determination of Hb mutations were done by microarray, restriction fragment length polymorphism (RFLP), amplification refractory mutation system (ARMS) and gap-polymerase chain reaction (gap-PCR) methodologies. Samples were analyzed for abnormal Hb and thalassemia mutations. Out of 8135 samples, 1382 were observed to be carrying Hb mutations. It was identified that 826 mutation carriers included abnormal Hbs with a frequency of 59.7%, 416 carriers included β-thalassemia (β-thal) mutations with a frequency of 30.7% and 136 carriers included α-thalassemia (α-thal) mutations with a frequency of 9.9%. In this study, the most frequently observed abnormal Hb in the region was Hb S [β6(A3)Glu→Val (GTG > GAG), HBB: c.20T > A], whereas the most commonly observed mutations were the IVS-I-110 (G > A) (HBB: c.93–21G > A) point mutation in β-thal and the 3.7 kb deletion in α-thal.

• Abnormal hemoglobin (Hb)
• α-thalassemia (α-thal)
• β-thalassemia (β-thal)
• hemoglobinopathy

Acknowledgments

In this article, findings from the studies titled ‘Establishing the infrastructure of the new methods to be used in the diagnosis of hemoglobinopathies: microarray and bioinformatics,’ project no. 2005K120320-E by DPT, ‘Screening of β thalassemic gene frequency and determination of mutation focuses in Çukurova,’ project no. TAG 0758 by TÜBİTAK, ‘Determination of miRNA expression levels by RT-PCR in sickle cell anemia cases,’ project no. TF2012D7 from the Çukurova University Research Fund, Adana, Turkey, ‘Typing of the hemoglobinopathies and informing study in high schools in the region of Hatay-Samandağ,’ project no. TF2008LTP14, ‘Determination of hemoglobinopathies with microarray method,’ project no. TF2006YL9, ‘Determination of abnormal hemoglobin and thalassemia mutation types of Konya region,’ project no. SBE2004D4, ‘Typing of β-thalassemia mutations of Anamur region,’ project no. SBE2002YL1, ‘Screening of thalassemic mutations in Kayseri region,’ project no. TF2001U32, ‘The analysis of the mutations that cause the deficiency of α thalassemia and G6PD enzyme at the molecular level,’ project no. SBE99D2, ‘The typing of α thalassemia deletions by PCR method in the Çukurova region,’ project no. TF 9522 and ‘Determination of α thalassemia mutations at the molecular level in the Çukurova region,’ project no. TFE 94-4, have been utilized. In this study, Dr. S. Yuzbasioglu Ariyurek, Dr. S. Menziletoglu Yildiz, Associate Professor A. Erdinc Yalin, Dr. F. Guzelgul and Professor Dr. K. Aksoy (Department of Medical Services and Technics, Vocational School of Health Services, Çukurova University, Adana; Department of Biochemistry, Faculty of Pharmacy, Mersin University, Mersin and Department of Medical Biochemistry, Faculty of Medicine, Çukurova University, Adana, Turkey) were involved in carrying out the experiments and in writing this article.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.