[Analysis of Gene Mutation Types in 920 Cases of Thalassemia]

To investigate the gene mutation types and distribution features of α- and β-thalassemia in reproductive population of Xing bin district of Guangxi Lai bin city so as to provide the scientific basis for formulating the preventive and control measures.

The high risk population with thalassemia in 6 498 people of child-bearing age admited in department of antenatal care of our hospital from January 2017 to December 2017 were screened by blood cell test and hemoglobin electrophoresis. The gene mutation types and mutation frequency in αandβthalassemia positive cases were diagnosed and analyzied by Gap-PCR and PCR-RDB.

The inital screening showed that there were 1 432 cases of thalassemia positive accounting for 22.04%; the gene diagnoses showed that there were 920 cases of thalassemia gene positive accounting for 14.16%. Among 920 cases, 593 cases were α-thalassemia accounting for 64.45% (593/920); the gene mutation types were 19 kinds. The α-deletion type gene was mainly --^SEA (47.22%), the α-mutatin type gene was mainly -α^csα(13.66%); 260 cases were the β-thalassemia accounting for 28.26%, (260/920), the gene mutation types were 9 kinds, out of which the β41-42 βN was main (50.38%), followed by β17/βN (38.08%)，there were 2 kinds of gene mutation types accounted for 88.46%; the αβ-thalassemia numbered 67 cases (7.28%), the mutation types were mainly --^SEA/β41-42 (17.91%) and -α3.7/β41-42 (17.91%).

The α-and β-thalassemia mostly observed in the childbearing population of Laibin city Xinbin district possess the gene comblexity and diversity as well as the significant genetic heterogeneily.The results of this study provide the reference basis for the prevention of thalassemia and eugenic works.