Volume 45 Issue 9
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Citation: 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 City[J]. Journal of Kunming Medical University, 2024, 45(9): 30-34. doi: 10.12259/j.issn.2095-610X.S20240905
shu

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

doi: 10.12259/j.issn.2095-610X.S20240905
  • 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
  • Publish Date: 2024-09-25
    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/-α3.7. 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 αanti3.7.  Conclusions  Baoshan region population has a high thalassemia carrier frequency. The most common gene mutation type was α α/-α3.7and CD26. This study provides theoretical support for thalassemia prevention and control as well as clinical genetic counseling in the Baoshan region.
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