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.