Application of Next-Generation Sequencing in Screening of Thalassemia Gene in 11212 Pregnant Women in Suxian and Beihu Districts of Chenzhou City, Hunan Province.
10.19746/j.cnki.issn.1009-2137.2021.01.029
- Author:
Min YANG
1
;
Cai-Yun LI
2
;
Dong-Zhu LEI
3
;
Hao-Qing ZHANG
4
Author Information
1. Chenzhou Hospital Affiliated to University of South China,Chenzhou 423000,Hunan Province, China.
2. Center of Prenatal Diagnosis, Chenzhou No.1 People's Hospital, Chenzhou 423000,Hunan Province, China.
3. Chenzhou Hospital Affiliated to University of South China,Chenzhou 423000,Hunan Province, China,Center of Prenatal Diagnosis, Chenzhou No.1 People's Hospital, Chenzhou 423000,Hunan Province, China.
4. Center of Prenatal Diagnosis, Chenzhou No.1 People's Hospital, Chenzhou 423000,Hunan Province, China,E-mail: 27580563@qq.com.
- Publication Type:Journal Article
- MeSH:
China;
Female;
Genotype;
Hemoglobins, Abnormal;
High-Throughput Nucleotide Sequencing;
Humans;
Mutation;
Pregnancy;
Pregnant Women;
alpha-Thalassemia/genetics*;
beta-Thalassemia/genetics*
- From:
Journal of Experimental Hematology
2021;29(1):188-192
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To understand the carrying rate, gene mutation frequency and composition ratio of thalassemia in pregnant women in Suxian and Beihu districts of Chenzhou, Hunan Province.
METHODS:Thalassemia gene in 11 212 samples was analyzed by using Next-Generation Sequencing.
RESULTS:Among the 11 212 samples, 938 were diagnosed as thalassemia, in which 618 (5.51%) were diagnosed as α-thalassemia, 268 (2.39%) as β-thalassemia, 29（0.26%）as abnormal hemoglobin and 23 (0.21%) as αβ-thalassemia. The gene mutations of --SEA /αα(40.29%) and -α3.7/αα(37.7%) in α-thalassemia were the most common, while for β- thalassemia, the most commonly gene mutation were β41-42M/βN(24.26%) and β654M/βN(23.88%). The detection rate of rare type α,β-thalassemia gene was 0.19%(21/11 212）, 0.53%（59/11 212）, respectively.
CONCLUSION:The carrying rate of thalassemia in pregnant women is 8.37% in Suxian and Beihu districts of Chenzhou city, and the genotypes are complex. Next-Generation Sequencing can detect rare thalassemia genes and new gene mutations effectively.
