Hemoglobinopathies in the Çukurova Region and Neighboring Provinces

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 be...

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Bibliographic Details
Published in:Hemoglobin 2016-06, Vol.40 (3), p.168-172
Main Authors: Yuzbasioglu Ariyurek, Sedefgul, Yildiz, Sule Menziletoglu, Yalin, Ali Erdinc, Guzelgul, Figen, Aksoy, Kiymet
Format: Article
Language:English
Subjects:
Abnormal hemoglobin (Hb)
alpha-Thalassemia - genetics
beta-Thalassemia - genetics
DNA Mutational Analysis - methods
Gene Frequency
Genetic Carrier Screening
Hemoglobin, Sickle - genetics
Hemoglobinopathies - epidemiology
Hemoglobinopathies - genetics
hemoglobinopathy
Hemoglobins, Abnormal - genetics
Humans
Molecular Epidemiology
Mutation
Turkey - epidemiology
α-thalassemia (α-thal)
β-thalassemia (β-thal)
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Summary: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.
ISSN:0363-0269
1532-432X
DOI:10.3109/03630269.2016.1155156