Diagnostic Value of HBA / 中国实验血液学杂志

OBJECTIVE@#To explore the diagnostic value of HBA@*METHODS@#1 178 couples in the department of women's health of Chongqing maternal and child health hospital were selected for pregnancy examination. Peripheral venous blood was extracted and analyzed for parallel blood routine test, hemoglobin capillary electrophoresis and thalassemia gene detection.@*RESULTS@#A total of 265 cases of thalassemia gene carriers were screened out in 1 178 couples； 91.3% β@*CONCLUSION@#HBA

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

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.