[Progress in the Genetic Detection of Thalassemia Based on Third-Generation Gene Sequencing --Review]

Abstract

Thalassemia is most widely distributed single gene autosome recessive genetic disease in the world, whose clinical manifestation was changed from asymptomatic anemia to severe anemia requiring continous blood transfusion to maintain life, thus resulting in a serious economic burden to society and families. Therefore, it is necessary to carry out the corresponding prentatal screening and diagnosis. Most of the conventional detection methods can only detect the common thalassemia genotype, it can easy to cause misdiagnosis or missed diagnosis for those rate genetic variantions. The third-generation sequecing (TGS) has been applied to the detection of thalassemia genes, which is more accurate, reliable and superior to the converntional detection methods. This article reviews the latest research progress of the TGS technology in genetic testing of thalassemia.

Keywords: thalassemia； third-generation gene sequecing； comprehensive analysis of thalassemia; single molecular real-time sequencing; long read sequencing.