Molecular and Hematological Characterization of α-Thalassemia in Denizli Province

Aim: Alpha thalassemia, a common monogenic disorder, occurs with defective synthesis of the -globin chain and has a very wide clinical spectrum depending on the disorders in the globin genes.This study aims to determine the frequency of -globin gene mutations in patients suspected of having alpha thalassemia in Denizli province and to evaluate the phenotypic effects of detected mutations.Methods: A total of 93 patients (55 female, 38 male) with suspected alpha thalassemia based on anemia, family history, premarital screening and high-performance liquid chromatography results were analyzed for -thalassemia gene deletions.DNA was isolated from peripheral blood samples, and the results were evaluated using the "Seqline Alpha Thalassemia Diagnostic Kit" to detect common -globin gene deletions: large deletions of 3.7 kb (-3.7),4.2 kb (-4.2), and 20.5 kb (-()20.5) in HBA1-2 genes, as well as MED1 (--MED) and SEA (--SEA).Results: Among the 93 patients, mutations were detected in 38 patients, yielding a deletion detection rate of 40.9%.The most common mutation was -3.7 (40.7%), followed by -()20.5 (17.1%), --MED (5.2%), and -4.2 (2.6%).No -SEA deletions were identified. Conclusion:This study represents the first molecular characterization of -thalassemia in Denizli province, identifying four different -thalassemia deletions and eight distinct genotypes.The findings provide valuable insights into the regional distribution and clinical implications of these mutations.