eISSN: 1896-9151
ISSN: 1734-1922
Archives of Medical Science
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3/2012
vol. 8
 
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abstract:

Basic research
β-Thalassemia mutations and hemoglobinopathies in Adana, Turkey: results from a single center study

Birol Guvenc, Abdullah Canataroglu, Cagatay Unsal, Sule Menziletoglu Yildiz, Ferda Tekin Turhan, Sevcan Tug Bozdogan, Suleyman Dincer, Hakan Erkman

Arch Med Sci 2012; 8, 3: 411-414
Online publish date: 2012/05/31
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Introduction: β-Thalassemia and hemoglobinopathies are common genetic disorders in Turkey and in this retrospective study our aim was to determine the frequency of β-thalassemia and hemoglobinopathies in Adana, which is one of the biggest cities located in the southern part of Turkey.

Material and methods: Data from 3000 individuals admitted to Seyhan Hereditary Blood Disorders Center in Adana were evaluated. The blood samples were collected into EDTA-containing tubes and hematological parameters were analyzed using an automatic cell counter. High performance liquid chromatography technique was used to determine the type of hemoglobin. Molecular screening of the β-globin gene was performed with b-Globin StripAssay.

Results: Of 3000 cases, 609 were diagnosed as b-thalassemia or hemoglobinopathy. We have found that the rates of occurrence of β-thalassemia and hemoglobinopathies are 13.46% and 6.83% respectively in this area. We have identified 18 different β-thalassemia mutations and three separate abnormal hemoglobins: HbS, HbD Los Angeles, and HbE. In molecular analyses, β-thalassemia gene mutations of IVSI.110 (G>A), codon 8 (–AA), IVSI.1 (G>A), IVSI.6 (T>C), –30 (T>A), IVSII.1 (G>A), codon 39 (C>T), codon 44 (–C), IVSI.5 (G>C), codon 5 (–CT), codon 8/9 (+G), IVSII.745 (C>G), codon 22 (7bp del), –101(C>T), codon 36/37 (–T), IVSI.15 (T>G), codon 6 (–A), –88 (G>A) were detected.

Conclusions: Considering the high incidence of mutations that we have found, β-thalassemia and hemoglobinopathies still seem to be a public health problem in Adana.
keywords:

β-Globin StripAssay, β-thalassemia, hemoglobinopathy, mutation, sickle cell anemia

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