Genetic predictions of life expectancy in southern Thai patients with β<sup>0</sup>-thalassemia/Hb E
Issued Date
2022-01-01
Resource Type
ISSN
20499434
eISSN
20499442
Scopus ID
2-s2.0-85130518633
Journal Title
Biomedical Reports
Volume
16
Issue
6
Rights Holder(s)
SCOPUS
Bibliographic Citation
Biomedical Reports Vol.16 No.6 (2022)
Suggested Citation
Nuinoon M., Rattanaporn P., Benjchareonwong T., Choowet A., Suwanno K., Saekoo N., Lekpetch K., Thipthara O., Svasti S., Fucharoen S. Genetic predictions of life expectancy in southern Thai patients with β<sup>0</sup>-thalassemia/Hb E. Biomedical Reports Vol.16 No.6 (2022). doi:10.3892/br.2022.1535 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/83910
Title
Genetic predictions of life expectancy in southern Thai patients with β<sup>0</sup>-thalassemia/Hb E
Other Contributor(s)
Abstract
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.