Application of Next-Generation Sequencing in Screening of Thalassemia Gene in 11212 Pregnant Women in Suxian and Beihu Districts of Chenzhou City, Hunan Province / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 188-192, 2021.
Article
in Zh
| WPRIM
| ID: wpr-880051
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Hemoglobins, Abnormal
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China
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Beta-Thalassemia
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Alpha-Thalassemia
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Pregnant Women
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High-Throughput Nucleotide Sequencing
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Genotype
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Mutation
Type of study:
Diagnostic_studies
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Screening_studies
Limits:
Female
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Humans
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Pregnancy
Country/Region as subject:
Asia
Language:
Zh
Journal:
Journal of Experimental Hematology
Year:
2021
Type:
Article