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

Abstract

Introductionβ-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 methodsData 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 β-Globin StripAssay.ResultsOf 3000 cases, 609 were diagnosed as β-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.ConclusionsConsidering the high incidence of mutations that we have found, β-thalassemia and hemoglobinopathies still seem to be a public health problem in Adana.

Novel Βeta (β)-Thalassemia Mutation in Turkish Children

“…Three most frequent b-globin gene mutations were reported in 62.16 % of our study, and the most common mutation was detected as IVS I-110 G[A, similar to previous reports [1,11,15]. The other most common mutations of IVS I-1 G[A (13.51 %) and, IVS I-6 T[C (10.81 %) were similar to previous report.…”

“…Approximately 300 different b-globin gene mutations for b-Thal have been reported and 40 of them are common in Turkey [11]. The first b-thalassemia study for Turkey was published in 1985 [1,12]. When considering the distribution of these mutations, it is seen that heterogeneity increases from the western part of the country to the east [13].…”

“…b-Thal, is the most frequently observed hereditary blood disorder in the world, is characterized by deficiency of hemoglobin b-globin gene and also is a profoundly heterogeneous, both at the molecular and clinical level [1,10]. Approximately 300 different b-globin gene mutations for b-Thal have been reported and 40 of them are common in Turkey [11].…”

“…Beta-thalassemia (b-Thal), is the most frequently observed hereditary blood disorder in the world and is characterized by deficiency of hemoglobin b-globin gene [1]. In the case of b-Thal, there is reduced (b ?…”

“…In the case of b-Thal, there is reduced (b ? type) or absent (b o type) synthesis of the beta chains of hemoglobin [1,2].…”