Molecular Characterization of alpha-Thalassemia in Adana, Turkey: A Single Center Study

WOS: 000278131800001PubMed ID: 20332613Background/Aim: alpha-Thalassemia (alpha-thal) is a widespread genetic disorder throughout the world caused primarily by reduced synthesis of the alpha-globin chains, and it has been found at a high incidence in Turkey. Our aim in this study was to determine the frequency and molecular properties of alpha-thal in Adana, Turkey. Material and Methods: A total of 3,000 individuals comprising premarital couples or patients with anemia were screened between 2007 and 2008. Hematological parameters were analyzed using an automatic cell counter, and to detect the carriers of hemoglobin variants, high-performance liquid chromatography was used. Molecular screening of the alpha-globin gene was carried out by an Alpha-Globin StripAssay (R) which is based on multiplex PCR for specific amplification. Results: We have identified 225 cases with alpha-thal and found that the prevalence of alpha-thal is 7.5% in this area. In molecular analyses, the alpha-thal gene mutations alpha(3.7), alpha(4.2), (--MED), (--20.5), alpha(PA-2 alpha), alpha alpha alpha(anti-3.7), and alpha(PA-1)alpha were detected. Conclusion: Our results showed that the alpha-thal mutations represent a great heterogeneity and that the -alpha(3.7) deletion has the highest frequency in Adana. Copyright (C) 2010 S. Karger AG, Base

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

WOS: 000306150200004PubMed ID: 22851993Introduction: beta-Thalassemia and hemoglobinopathies are common genetic disorders in Turkey and in this retrospective study our aim was to determine the frequency of beta-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 beta-globin gene was performed with beta-Globin StripAssay. Results: Of 3000 cases, 609 were diagnosed as beta-thalassemia or hemoglobinopathy. We have found that the rates of occurrence of beta-thalassemia and hemoglobinopathies are 13.46% and 6.83% respectively in this area. We have identified 18 different beta-thalassemia mutations and three separate abnormal hemoglobins: HbS, HbD Los Angeles, and HbE. In molecular analyses, beta-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, beta-thalassemia and hemoglobinopathies still seem to be a public health problem in Adana