The invention provides a primer group, a method and a kit for detecting
thalassemia, which can be used for simultaneously detecting
thalassemia related genes, related regulatory regions and modified
gene mutations. According to the method, multiple regions and multiple mutations of HBA1, HBA2, HBB and other genes, related regulatory regions (LCR, 3 'HS, HS-40 and MCS-R) and modified genes (HBD,
MYB, BCL11A and KLF1) are detected at the same
time based on multiple PCR amplification and three-generation sequencing, amplification of
related gene deletion type and non-deletion type mutations can be achieved at the same time in a single
reaction tube through multiple PCR; a third-generation sequencing platform (an ONT sequencing platform and a PacBio company sequencing platform) is subsequently adopted for subsequent detection, the method is easy and convenient to operate, multiple PCR and a third-generation sequencing
library are reliable in quality and high in
repeatability, application of the third-generation sequencing technology to clinical detection is facilitated, and the method is suitable for clinical detection. According to the invention, various deletion and non-
deletion mutation, complex structure variation and the like can be detected at the same time; when two or more mutations exist on the HBA1 / 2 or HBB
gene locus at the same time, cis-
mutation or trans-
mutation can be distinguished.