• Arch Med Sci · Jan 2023

    Determining the current prevalence of β-thalassemia variants in Jordan.

    • Diya Hasan, Ahmad Al Tibi, George Burghel, and Amid Abdelnour.
    • Al Balqa Applied University, Allied Medical Sciences, Jordan.
    • Arch Med Sci. 2023 Jan 1; 19 (2): 523527523-527.

    IntroductionThis study aimed to define and update the prevalence of β-pathogenic thalassemia variants in Jordan.MethodsA 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.ResultsFive 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].ConclusionsThe 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.Copyright: © 2023 Termedia & Banach.

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