Molecular spectrum of alpha-globin gene mutations in the Aegean region of Turkey: first observation of three alpha-globin gene mutations in the Turkish population

Molecular test results of 231 individuals referred to our molecular genetics laboratory for analysis of alpha-globin gene mutations between the years 2007 and 2013 were evaluated. Analysis of alpha-thalassemia gene mutations was performed using reverse dot-blot hybridisation, which includes 21 common mutations. Twelve distinct alpha-thalassemia mutations and 23 different genotypes have been detected in the Aegean region of Turkey. The most frequent mutations were -alpha 3.7 (52.28 %), -(alpha)20.5 (14.74 %), --MED (10.53 %), and alpha PA-1 alpha (8.77 %). Three alpha-thalassemia mutations (alpha cd142 alpha, --SEA, and alpha IC alpha), which are more prevalent in Southeast Asia, are identified for the first time in Turkey in this study. We find that a broad spectrum of alpha-thalassemia mutations is present in the Aegean region of Turkey. The results obtained in this study may help inform decisions in the design and implementation of prevention strategies and diagnostic approaches.