Analysis of Genetic Diagnosis Results for Thalassemia in Childbearing Age Population in Baoshan Region

Peng LI; Qionghua GENG; Qingsu FAN; Xuemei LI; Jie ZHANG; Zili ZHANG; Caiwei WU; Yuzhen HU

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Peng LI, Qionghua GENG, Qingsu FAN, Xuemei LI, Jie ZHANG, Zili ZHANG, Caiwei WU, Yuzhen HU. Analysis of Genetic Diagnosis Results for Thalassemia in Childbearing Age Population in Baoshan Region[J]. Journal of Kunming Medical University.

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Analysis of Genetic Diagnosis Results for Thalassemia in Childbearing Age Population in Baoshan Region

1.
Medical Laboratory Department，The Third People’s Hospital of Yunnan Province，Kunming Yunnan 650011
2.
Genetics and Reproduction of Maternal and Child Health Care Hospital in Longyang District of Baoshan City，Baoshan Yunnan 678000
3.
Dept. of Medical Genetics，The First People’s Hospital of Yunnan Province，Kunming Yunnan 650032，China

Received Date: 2024-03-21
Available Online: 2024-06-15

Abstract

Abstract

Objective To investigate the gene-carrying rate of thalassemia in the population of Baoshan. Methods A total of 874 samples were α-thalassemia and β-thalassemia detected by NGS, and the ethnic characteristics of the population were statistically analyzed. Results There were 251 cases of positive thalassemia gene, accounting for 28.72%（251/874）. There were 140 α-thalassemia carriers, with a positive rate of 16.02% （140/874）. The most common gene mutation type was α α/-α^3.7. There were 95 β-thalassemia carriers, with a positive rate of 10.87% （95/874）. The most common gene mutation type was CD26. There were 16 α- and β-thalassemia compound carriers, with a positive rate of 1.83% （16/874）; Comparison of the differences between Han and Ethnic populations in thalassemia carry （P < 0.01） was statistically significant. There were 13 α-globin gene triplet carriers, with a positive rate of 1.49% （13/874）. The most common gene mutation type was α α α^anti3.7. Conclusion Baoshan region population has a high thalassemia carrier frequency. The most common gene mutation type was α α/-α^3.7and CD26. This study provides theoretical support for thalassemia prevention and control as well as clinical genetic counseling in the Baoshan region.
- Thalassemia,
- α-globin gene triple,
- Genetic counseling

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References(27)

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