Prevalence and Genotypes Analysis of Thalassemia Among People of Reproductive Age in Yuzhong District of Chongqing Based on Next-Generation Sequencing / 中国实验血液学杂志

ABSTRACT

OBJECTIVE@#To investigate the prevalence and gene distribution of thalassemia among people at reproductive age in yuzhong district, Chongqing.@*METHODS@#1000 pre -pregnancy examination couples in yuzhong district were investigated. Peripheral venous blood was extracted and next-generation sequencing was used to screen the thalassemia genes.@*RESULTS@#Among the 1000 pregnant couples, the thalassemia gene carrying rate was 7.45%, the carrying rate of α and β thalassemia genes were 4.60% and 2.10%, respectively. The most common α thalassemia genotypes in αα/-α3.7 (53.26%), αα/--SEA (23.91%), αα/-α4.2 (11.96%); and the most common genotypes in β thalassemia genotypes were mainly Codons17 (A＞T) (26.19%)、Condon41/42 (-TTCT) (26.19%)、IVS-II-654 (C＞T) (14.29%) At the same time, 3 cases of α and β complex thalassemia and 3 pairs of homotypic thalassemia genes were detected, more over, 12 cases of 5 new genes were found.@*CONCLUSION@#Yuzhong district of Chongqing is a high incidence area of thalassemia, and the diversity of gene mutation types is relatively rich. Screening for thalassemia before pregnancy is of great significance to improve the quality of population.