ArticleThrombosis journal2023
Molecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence.
Article in Thrombosis journal, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 8 citations in OpenAlex.
- Genotype-phenotype correlation in alpha-thalassemia: predicting genetic subgroups via laboratory parameters.Frontiers in medicine · 2026Article
- A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.Human mutation · 2026Review
- Genotypic distribution and molecular spectrum of rare and novel thalassemia variants in Ganzhou, southern China.Frontiers in molecular biosciences · 2026Article
- Genetic analysis of thalassemia in putian: comparative insights into mutation spectra with other global regions.Annals of hematology · 2025Article
- Distribution of Hemoglobinopathy Disorders in Al-Kharj Province Based on Data from the Premarital Screening and Genetic Counseling Program.Medicina (Kaunas, Lithuania) · 2025Article
- Article
- Outcomes of the premarital screening program in Riyadh Region, KSA in 2021-2022: A cross-sectional study.Journal of Taibah University Medical Sciences · 2024Article
- Risk Factors and Outcomes of Acute Kidney Injury After Cardiac Surgery: A Retrospective Observational Single-Center Study.Journal of clinical medicine research · 2024Article
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlpha-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.
methodsThis 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.
resultsSeven mutations in the α-globin gene were identified in 88.96% (556) patients. The most frequent abnormality of a-globin genes was -α
conclusionThe 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.
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