Gene Mutation Types and Ethnic Distribution Characteristic of Thalassemia in Guiyang / 中国实验血液学杂志

ABSTRACT

OBJECTIVE@#To investigate the genetic mutation types and ethnic distribution characteristics of thalassemia in Guiyang.@*METHODS@#The population underwent physical examination, antenatal examination and pre-pregnancy examination in our hospital from January 2019 to November 2019 was selected, and the thalassemia gene was detected by RDB-PCR.@*RESULTS@#Among the 4 572 samples, 346 were positive , and the total carrying rate was 7.57%. The carrying rate of α-thalassaemia gene was 5.42% (248 cases), while β-thalassemia was 1.99% (91 cases), and α+β-compound thalassemia was 0.15% (7 cases). α-thalassaemia genotype with the lack of right side -α@*CONCLUSION@#The gene types of thalassemia in Guiyang are complex and varied. The -α