Determining the current prevalence of β-thalassemia variants in Jordan

Diya Hasan; Ahmad Al Tibi; George Burghel; Amid Abdelnour

doi:10.5114/aoms/161096

Determining the current prevalence of β-thalassemia variants in Jordan

Arch Med Sci. 2023 Mar 10;19(2):523-527. doi: 10.5114/aoms/161096. eCollection 2023.

Authors

Diya Hasan¹, Ahmad Al Tibi², George Burghel³, Amid Abdelnour²

Affiliations

¹ Al Balqa Applied University, Allied Medical Sciences, Jordan.
² Biolab Diagnostic Laboratories, Amman, Jordan.
³ Manchester University NHS Foundation Trust, Manchester Centre for Genomics Medicine, Manchester, UK.

Abstract

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.

Keywords: hemoglobin; hemoglobinopathies; pathogenic variants; β-thalassemia.