Molecular Testing for Thalassemia: Mutation DetectionAccording to Referral Reasons and Demographic Data

Abstract

Objective: Thalassemia is the most common inherited blood disorder worldwide and an important public health problemin Mediterranean countries such as Turkey. In this study, we aimed to define mutation detection rates according to referralreasons based on molecular testing results. Materials and Methods: The data of 315 patients tested for thalassemia using the reverse dot-blot method between 2007and 2017 at the Department of Medical Genetics, Ankara University School of Medicine, were analyzed. Results: The most frequent mutations were 3.7-kb deletion and IVS1.110 [G>A] for alpha (α)- and beta (β)-thalassemia, re spectively. Statistical correlation was found between the samples identified after clinical indication and the mutation detectionrate in α-thalassemia (Pearson chi-square two-sided p=0.006). Moroever, a statistically significant correlation was detectedbetween the β-thalassemia mutation rate and positive family history (continuity-to-correction two-sided p=0.002). Conclusion: Our results highlight the importance of positive family history and evaluation of hematologic parameters andconsanguinity in mutation detection for thalassemias.