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 |
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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 |
| _version_ | 1827620427416993792 |
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| author | Diya Hasan Ahmad Al Tibi George Burghel Amid Abdelnour |
| author_facet | Diya Hasan Ahmad Al Tibi George Burghel Amid Abdelnour |
| author_sort | Diya Hasan |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T10:47:13Z |
| format | Article |
| id | doaj.art-2f41dda4944f47c582027b9066d36b6b |
| institution | Directory Open Access Journal |
| issn | 1734-1922 1896-9151 |
| language | English |
| last_indexed | 2024-03-09T10:47:13Z |
| publishDate | 2023-03-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Archives of Medical Science |
| spelling | doaj.art-2f41dda4944f47c582027b9066d36b6b2023-12-01T09:52:59ZengTermedia Publishing HouseArchives of Medical Science1734-19221896-91512023-03-0119252352710.5114/aoms/161096161096Determining the current prevalence of β-thalassemia variants in JordanDiya Hasan0Ahmad Al Tibi1George Burghel2Amid Abdelnour3Al Balqa Applied University, Allied Medical Sciences, JordanBiolab Diagnostic Laboratories, Amman, Jordan, JordanManchester University NHS Foundation Trust, Manchester Centre for Genomics Medicine, Manchester, UK, United KingdomBiolab Diagnostic Laboratories, Amman, Jordan, JordanIntroduction 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.https://www.archivesofmedicalscience.com/Determining-the-current-prevalence-of-thalassemia-variants-in-Jordan,161096,0,2.htmlhemoglobinopathiesβ-thalassemiapathogenic variantshemoglobin |
| spellingShingle | Diya Hasan Ahmad Al Tibi George Burghel Amid Abdelnour Determining the current prevalence of β-thalassemia variants in Jordan Archives of Medical Science hemoglobinopathies β-thalassemia pathogenic variants hemoglobin |
| title | Determining the current prevalence of β-thalassemia variants in Jordan |
| title_full | Determining the current prevalence of β-thalassemia variants in Jordan |
| title_fullStr | Determining the current prevalence of β-thalassemia variants in Jordan |
| title_full_unstemmed | Determining the current prevalence of β-thalassemia variants in Jordan |
| title_short | Determining the current prevalence of β-thalassemia variants in Jordan |
| title_sort | determining the current prevalence of β thalassemia variants in jordan |
| topic | hemoglobinopathies β-thalassemia pathogenic variants hemoglobin |
| url | https://www.archivesofmedicalscience.com/Determining-the-current-prevalence-of-thalassemia-variants-in-Jordan,161096,0,2.html |
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