Article: [Genetic Analysis of Thalassemia in 22 940 Pregnant Women in Xiangxi Tujia and Miao Autonomous Prefecture].
Zhongguo shi yan xue ye xue za zhi
2022 Volume 30, Issue 1, Page(s) 206–210
Abstract: Objective: To investigate the incidence and types of thalassemia in Xiangxi Tujia and Miao ... ethnicity, 2 821 cases of Miao ethnicity, and 2 233 cases of Han ethnicity included, whose ethnicity were ...
Abstract | Objective: To investigate the incidence and types of thalassemia in Xiangxi Tujia and Miao Autonomous Prefecture. Methods: Automatic capillary electrophoresis was used to screen the thalassemia phenotypes of 22 940 blood samples of pregnant women and puerperants collected in our hospital and some other medical institutions in the prefecture during 2017-2019, among which there were 3 356 cases of Tujia ethnicity, 2 821 cases of Miao ethnicity, and 2 233 cases of Han ethnicity included, whose ethnicity were indicated. The samples with positive result would undergo further genetic testing. Results: There were 2 314 cases of suspicious thalassemia were screened from 22 940 cases by the electrophoresis, thus the positive rate was 10.1% (hematological phenotypes from some other institutions were not included). Specifically, there were 1 706 cases with HBA Conclusion: The positive rate of thalassemia screening in Xiangxi Autonomous Prefecture is roughly the same as that in other regions of Hunan. The positive predictive value of β-thalassemia screening is as high as 86%. Compared with the missed screening data, it is recommended to use hematology (MCV, MCH) method combined with capillary hemoglobin electrophoresis for thalassemia screening. |
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MeSH term(s) | Ethnicity ; Female ; Genetic Testing ; Hemoglobin A2/analysis ; Humans ; Pregnancy ; Pregnant Women ; alpha-Thalassemia/genetics ; beta-Thalassemia/genetics |
Chemical Substances | Hemoglobin A2 (9034-53-1) |
Language | Chinese |
Publishing date | 2022-02-05 |
Publishing country | China |
Document type | Journal Article |
ZDB-ID | 2404306-0 |
ISSN | 1009-2137 |
ISSN | 1009-2137 |
DOI | 10.19746/j.cnki.issn.1009-2137.2022.01.034 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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