ß-Thalassemia mutations and hemoglobinopathies in Adana, Turkey: Results from a single center study

Introduction: ß-Thalassemia and hemoglobinopathies are common genetic disorders in Turkey and in this retrospective study our aim was to determine the frequency of ß-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 ß-globin gene was performed with ß-Globin StripAssay. Results: Of 3000 cases, 609 were diagnosed as ß-thalassemia or hemoglobinopathy. We have found that the rates of occurrence of ß-thalassemia and hemoglobinopathies are 13.46% and 6.83% respectively in this area. We have identified 18 different ß-thalassemia mutations and three separate abnormal hemoglobins: HbS, HbD Los Angeles, and HbE. In molecular analyses, ß-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, ß-thalassemia and hemoglobinopathies still seem to be a public health problem in Adana. Copyright © 2012 Termedia & Banach