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. 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 pa...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Termedia Publishing House
2023-03-01
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| Series: | Archives of Medical Science |
| Subjects: | |
| Online Access: | https://www.archivesofmedicalscience.com/Determining-the-current-prevalence-of-thalassemia-variants-in-Jordan,161096,0,2.html |
| Summary: | 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. |
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| ISSN: | 1734-1922 1896-9151 |