[Gene Mutation Types and Ethnic Distribution Characteristic of Thalassemia in Guiyang].

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/αα (52.82%) was the most common, followed by -/αα (25.00%) and -α/αα (10.48%). β-thalassemia genotype was mainly CD17 (A→T) (51.65%), followed by CD41-42 (-TCTT) (25.27%) and IVS-2-654 (C→T) (12.09%). One case of rare αα/ααα and one case of rare HBB:c.-153C>A (-103 C>A) mutation were detected. Among the 346 positive samples, 264 were from the Han nationality and 82 from the ethnic minorities, among which Buyi nationality accounted for the most (35.80%), followed by Miao nationality (20.54%).

Conclusion: The gene types of thalassemia in Guiyang are complex and varied. The -α/αα is the most common genotype of α-thalassemia, while CD17 (A→T) (51.65%) is the most common genotype of β-thalassemia. The carrying rate of thalassemia in the Buyi nationality is higher than other nations, it is necessary to carry out regular monitoring and publicity.