Molecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence
Abstract Background Alpha-thalassemia (α-thalassemia) is one of the most common monogenic diseases in Saudi Arabia and is associated with significant morbidity. Premarital testing programs in Saudi Arabia reduce the burden of hemoglobinopathy disorders, and ongoing monitoring is required. We aimed t...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-11-01
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| Series: | Thrombosis Journal |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12959-023-00560-w |
| _version_ | 1827764208033333248 |
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| author | Hayaa M. Alhuthali Eman F. Ataya Alaa Alsalmi Triq E Elmissbah Khalaf F Alsharif Hind A. Alzahrani Ahad Amer Alsaiari Mamdouh Allahyani Amal F. Gharib Husam Qanash Heba M. Elmasry Doha Elsayed Hassanein |
| author_facet | Hayaa M. Alhuthali Eman F. Ataya Alaa Alsalmi Triq E Elmissbah Khalaf F Alsharif Hind A. Alzahrani Ahad Amer Alsaiari Mamdouh Allahyani Amal F. Gharib Husam Qanash Heba M. Elmasry Doha Elsayed Hassanein |
| author_sort | Hayaa M. Alhuthali |
| collection | DOAJ |
| description | Abstract Background Alpha-thalassemia (α-thalassemia) is one of the most common monogenic diseases in Saudi Arabia and is associated with significant morbidity. Premarital testing programs in Saudi Arabia reduce the burden of hemoglobinopathy disorders, and ongoing monitoring is required. We aimed to explore the molecular nature of α-globin genes and identify the most common genotypes and regions with a high risk of α-thalassemia in Saudi Arabia. Methods This retrospective study was conducted between January 2021 and December 2022. Six hundred twenty-five samples from patients with microcytic hypochromic anemia in Saudi Arabia were analyzed using reverse dot blot hybridization (RDBH)-based multiplex-PCR, which screens for the known 21 mutations of α-globin genes. Results Seven mutations in the α-globin gene were identified in 88.96% (556) patients. The most frequent abnormality of a-globin genes was −α3.7 (62.3%), followed by α2IVS1(−5nt) (20.7%) and α2 polyA-1 (α2T.Saudi) (14.1%). Interestingly, α2 polyA-2 (α2T.Turkish) was identified in Saudi and presented with −MED, causing Haemoglobin H disease. The incidence of α-thalassemia in Saudi Arabia’s cities showed significant differences (P = 0.004). Jeddah City had the highest percentage of cases (25%), followed by Makkah (23%), Taif (13.3%), and Al-Ahassa (12.4%). Conclusion The study provides current knowledge about the molecular nature of α- thalassemia, highlights the common genotypes that could contribute to disease occurrence in the Saudi population, and sheds light on Saudi regions with a high incidence. It also recommends further studies in a larger population and with differently composed molecular assays to verify these findings. |
| first_indexed | 2024-03-11T11:02:28Z |
| format | Article |
| id | doaj.art-b531af6449c847da8d0c387443d3a433 |
| institution | Directory Open Access Journal |
| issn | 1477-9560 |
| language | English |
| last_indexed | 2024-03-11T11:02:28Z |
| publishDate | 2023-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Thrombosis Journal |
| spelling | doaj.art-b531af6449c847da8d0c387443d3a4332023-11-12T12:27:20ZengBMCThrombosis Journal1477-95602023-11-012111810.1186/s12959-023-00560-wMolecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidenceHayaa M. Alhuthali0Eman F. Ataya1Alaa Alsalmi2Triq E Elmissbah3Khalaf F Alsharif4Hind A. Alzahrani5Ahad Amer Alsaiari6Mamdouh Allahyani7Amal F. Gharib8Husam Qanash9Heba M. Elmasry10Doha Elsayed Hassanein11Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Taif UniversityBasic sciences, College of Applied Medical Sciences, Albaha UniversityDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, Taif UniversityDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, Taif UniversityDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, Taif UniversityBasic sciences, College of Applied Medical Sciences, Albaha UniversityDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, Taif UniversityDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, Taif UniversityDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, Taif UniversityDepartment of Medical Laboratory Science, College of Applied Medical Sciences, University of Ha’ilAl Borg Medical laboratoriesAl Borg Medical laboratoriesAbstract Background Alpha-thalassemia (α-thalassemia) is one of the most common monogenic diseases in Saudi Arabia and is associated with significant morbidity. Premarital testing programs in Saudi Arabia reduce the burden of hemoglobinopathy disorders, and ongoing monitoring is required. We aimed to explore the molecular nature of α-globin genes and identify the most common genotypes and regions with a high risk of α-thalassemia in Saudi Arabia. Methods This retrospective study was conducted between January 2021 and December 2022. Six hundred twenty-five samples from patients with microcytic hypochromic anemia in Saudi Arabia were analyzed using reverse dot blot hybridization (RDBH)-based multiplex-PCR, which screens for the known 21 mutations of α-globin genes. Results Seven mutations in the α-globin gene were identified in 88.96% (556) patients. The most frequent abnormality of a-globin genes was −α3.7 (62.3%), followed by α2IVS1(−5nt) (20.7%) and α2 polyA-1 (α2T.Saudi) (14.1%). Interestingly, α2 polyA-2 (α2T.Turkish) was identified in Saudi and presented with −MED, causing Haemoglobin H disease. The incidence of α-thalassemia in Saudi Arabia’s cities showed significant differences (P = 0.004). Jeddah City had the highest percentage of cases (25%), followed by Makkah (23%), Taif (13.3%), and Al-Ahassa (12.4%). Conclusion The study provides current knowledge about the molecular nature of α- thalassemia, highlights the common genotypes that could contribute to disease occurrence in the Saudi population, and sheds light on Saudi regions with a high incidence. It also recommends further studies in a larger population and with differently composed molecular assays to verify these findings.https://doi.org/10.1186/s12959-023-00560-wAlpha-thalassemia genotypesα-thalassemia in the Saudi populationConsanguineous marriagesPremarital testing program |
| spellingShingle | Hayaa M. Alhuthali Eman F. Ataya Alaa Alsalmi Triq E Elmissbah Khalaf F Alsharif Hind A. Alzahrani Ahad Amer Alsaiari Mamdouh Allahyani Amal F. Gharib Husam Qanash Heba M. Elmasry Doha Elsayed Hassanein Molecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence Thrombosis Journal Alpha-thalassemia genotypes α-thalassemia in the Saudi population Consanguineous marriages Premarital testing program |
| title | Molecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence |
| title_full | Molecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence |
| title_fullStr | Molecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence |
| title_full_unstemmed | Molecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence |
| title_short | Molecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence |
| title_sort | molecular patterns of alpha thalassemia in the kingdom of saudi arabia identification of prevalent genotypes and regions with high incidence |
| topic | Alpha-thalassemia genotypes α-thalassemia in the Saudi population Consanguineous marriages Premarital testing program |
| url | https://doi.org/10.1186/s12959-023-00560-w |
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