Genetic predictions of life expectancy in southern Thai patients with β<sup>0</sup>-thalassemia/Hb E
The t ypes of β- t hal assemi a mut at i ons, α-thalassemia interactions, and Hb F-associated SNPs have been described in association with variable disease phenotypes. This study aimed to determine the updated spectrum of β-thalassemia mutations and evaluate the contribution of primary and secondary...
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| Format: | Article |
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2023
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| Online Access: | https://repository.li.mahidol.ac.th/handle/123456789/83910 |
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| Institution: | Mahidol University |
| Summary: | The t ypes of β- t hal assemi a mut at i ons, α-thalassemia interactions, and Hb F-associated SNPs have been described in association with variable disease phenotypes. This study aimed to determine the updated spectrum of β-thalassemia mutations and evaluate the contribution of primary and secondary genetic modifiers and SNPs to disease severity, age at onset, and predicted life expectancy in southern Thai β-thalassemia patients. A total of 181 β-thalassemia patients were enrolled and 135 β0 -thalassemia/Hb E patients without α-thalassemia interactions were divided into three categories according to disease severity, age at onset, and predicted life expectancy. A total of 16 β-thalassemia mutations were identified in this study, and the three most common β-thalassemia mutations accounted for 61.4% of all mutations. It was also found that the XmnI polymorphism and rs2071348 were associated with age at onset and the predicted life. |
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