Alpha thalassemia in Istanbul: Distribution of deletions in alpha-globin gene cluster

Background/Aims: Alpha thalassemia is an autosomal recessive congenital disease resulting from a globin protein disorder encoded by genes in the alpha thalassemia gene cluster. It presents a wide range of clinical conditions, from mild anemia to hydrops fetalis. Alpha thalassemia trait is common in Middle Eastern and Mediterranean countries. It is included in the premarital screening program in Turkey. TThe aim of this study was to determine the spectrum of alpha thalassemia deletions observed in Istanbul. Methods: This cohort included 169 patients who were clinically suspected to have alpha thalassemia disease or carrier, and whose mutation was detected by the MLPA method. Results: The identified variants were listed according to their frequencies and compared to previous studies conducted in different regions of Türkiye. A total of 338 alleles 61.8 % (209/338) mutations were detected. The most common variant was −α3.7 and -αMED ranked second. Conclusions: This study reports thalassemia mutations in Istanbul, it revealed a different spectrum for some variants compared to previous studies in the region.