Determining the current prevalence of β-thalassemia variants in Jordan

INTRODUCTION: This study aimed to define and update the prevalence of β-pathogenic thalassemia variants in Jordan. METHODS: A total of 158 patients with suspected β-thalassemia minor were examined using CBC and Hb-electrophoresis, and polymerase chain reaction with hybridization to identify the type of pathogenic variants. RESULTS: Five common and seven rare β-thalassemia pathogenic variants were identified in this study, in addition to three variants that had not been previously reported: -101 [C>T], IVS 1.130 [G>C], and codon 44 [-C]. CONCLUSIONS: The results provide a new update on the existing Jordanian β-thalassemia variant database that will aid the enhancement of diagnostic and treatment protocols for patients.