The retrospective evaluation of premarital hemoglobinopathy screening results between the years of 2008-2019 in Aydın province

Thalassemia syndromes also known as Mediterranean anemia, and other hemoglobinopathies are seen significantly in our country in the Mediterranean basin. In our country, premarital screening programs are implemented for hemoglobinopathies within the scope of national public health prevention policy. In this study, the results of genetic testing in premarital screening programs was evaluated, when between the years of 2008 and 2019. The aim of the study was to determine the type, rate and genotype-phenotype correlation of mutations detected in hemoglobinopathy genetic tests, in addition, to establish a relationship between laboratory values and mutations specific to Aydın province and our country. HBA gene for alpha thalassemia was analyzed by stripassay method. In 124 cases included in the study; a total of 148 mutations including 10 different mutations and 16 different genotypes, 2 of which were variant hemoglobin related, were detected. Among the mutations, it was seen that the highest rate of mutations was -α3.7 mutation; second -(α)20.5 mutation and third --MED mutation. The results were consistent with previous studies conducted in Turkey. HBB gene for beta thalassemia was analyzed by DNA sequence analysis method. In 238 cases included in the study; a total of 247 mutations were identified, of which 181 were associated with β thalassemia and 65 were with variant hemoglobin. Among the mutations associated with β thalassemia, the highest rate of IVS-I-110 G>A mutation; secondly, IVS-I-1 G>A mutation and thirdly IVS-I-6 T>C mutation. In the country-wide studies, similar results have been obtained close to the Aegean region. Hb S mutation was seen the highest among the variant hemoglobin. Hb GCoushatta, which is rarely known in the country, was seen at a similar rate to Hb DPunjab in our study and was recorded as the second highest rate. At the same time, Hb E variant often seen thirdly in many studies in Turkey was not observed in our study. A total of 11 different variants of hemoglobin were detected in α and β globin genes.