HEMATOLOGY / RESEARCH LETTER
Determining the current prevalence of β-thalassemia variants in Jordan
| 1 | Al Balqa Applied University, Allied Medical Sciences, Jordan |
| 2 | Biolab Diagnostic Laboratories, Amman, Jordan, Jordan |
| 3 | Manchester University NHS Foundation Trust, Manchester Centre for Genomics Medicine, Manchester, UK, United Kingdom |
CORRESPONDING AUTHOR
Submission date: 2023-01-12
Acceptance date: 2023-02-10
Online publication date: 2023-03-10
Publication date: 2023-03-01
Arch Med Sci 2023;19(2):523–527
KEYWORDS
TOPICS
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.
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.
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