ArticleMolecular syndromology2024
Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey.
Article in Molecular syndromology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed.
- Article
- Catalog of 73 novel variants in thalassemia: discoveries and insights.Human molecular genetics · 2025Article
- The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion.The application of clinical genetics · 2025Article
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Beta thalassemia is a serious disease for which mutation-based diagnostic and screening tests are readily available. These tests are based on specific variant profile in the regions of the testing centers. De novo mutations and migration change the distribution of these variants. We aim to update the variant spectrum in the Methods: This study includes 142 patients (46 of Turkish, 96 of Syrian) who were investigated for defects in their β-globin gene with Sanger sequencing. Clinically, 52 of these patients had thalassemia major, and 90 had thalassemia minor. Results: Twenty three types of pathogenic variants were identified causing beta thalassemia and abnormal hemoglobins. Variant distribution has differed considerably between Turkish and Syrian patients. While the IVSI-110G>A was the most prevalent variant (41.1%) in Turkish patients, the IVSII-1G>A and Codon 39 (C>T) variants were found in 22% and 21.3%, respectively, in Syrian patients. We detected the novel c.31_32insT variant in 3 Syrian patients. Conclusion: The detection of updated regional
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