Determining the current prevalence of β-thalassemia variants in Jordan

Abstract

Introduction This study aimed to define and update the prevalence of β-pathogenic thalassemia variants in Jordan. Material and methods A total of 158 patients with suspected β-thalassemia minor were examined using (CBC and Hb-electrophoresis), and (PCR 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 beta-thalassemia variant database that will aid the enhancement of diagnostic and treatment protocols for patients.

Keywords

• hemoglobinopathies
• β-thalassemia
• pathogenic variants
• hemoglobin