title: 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.
authors.affiliation: a Department of Medical Services and Technics , Vocational School of Health Services, Çukurova University , Adana , Turkey.
authors.forename: Sedefgul
authors.initials: S
authors.lastname: Yuzbasioglu Ariyurek
authors.affiliation: a Department of Medical Services and Technics , Vocational School of Health Services, Çukurova University , Adana , Turkey.
authors.forename: Sule Menziletoglu
authors.initials: SM
authors.lastname: Yildiz
authors.affiliation: b Department of Biochemistry , Faculty of Pharmacy, Mersin University , Mersin , Turkey.
authors.forename: Ali Erdinc
authors.initials: AE
authors.lastname: Yalin
authors.affiliation: c Department of Medical Biochemistry , Faculty of Medicine, Çukurova University , Adana , Turkey.
authors.forename: Figen
authors.initials: F
authors.lastname: Guzelgul
authors.affiliation: c Department of Medical Biochemistry , Faculty of Medicine, Çukurova University , Adana , Turkey.
authors.forename: Kiymet
authors.initials: K
authors.lastname: Aksoy
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006451:Hemoglobin, Sickle / Q000235:genetics; D006453:Hemoglobinopathies / Q000453:epidemiology* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D017720:Molecular Epidemiology; D009154:Mutation; D014421:Turkey / Q000453:epidemiology; D017085:alpha-Thalassemia / Q000235:genetics; D017086:beta-Thalassemia / Q000235:genetics
chemical_list: D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal
keywords: Abnormal hemoglobin (Hb); hemoglobinopathy; α-thalassemia (α-thal); β-thalassemia (β-thal)