Prevalence Status And Rare Genotypes Detection Of Thalassemia In Hainan Li Nationality

Objective Investigate the prevalence status and detect rare genotypes for thalassemia in Li nationality of Hainan province,and provide new investigation basis for thalassemia prevention and treatment in the Li nationality region.Methods Taking ethnic middle school students in Li nationality as the research object,collecting venous blood with 3mL for blood cells analysis,hemoglobin electrophoresis,and using the thalassemia(?/?)gene detection kit combined with Luminex MAGPIX scanner for common thalassaemia genotyping,statistical analysis of types of thalassemia,gene carrying rates,genotypes,and allele frequencies in the Li and Han.In addition,select Li samples for globin gene sequencing to find rare genotypes,which the results of blood cell analysis and hemoglobin electrophoresis are not consistent with genotype detection.Analysis the mutant structures of rare genes by sequence alignment and study the genetic characteristics of their families.Results In this study,a total of 4,817 blood samples of Li and 2,790 blood samples of Han were collected.Blood cell analysis and hemoglobin electrophoresis screening results showed that the suspected thalassemia carrying rate of the Li and Han were 90.38%and 77.78%,respectively.Common thalassemia gene detection results showed that the carrying rates of the thalassemia gene in the Li and Han were 59.83%and 21.36%,respectively,and all were dominated by a-thalassemia(genetic carrying rates were 54.97%and 19.07%,respectively.),the higher genotype:frequencies were-a4.2(Aa)and-a3.7(Aa);For P-thalassaemia,the gene carrying rates of the Li and Han were 1.62%and 1.83%respectively,and the mainly genotypes were CD41-42;For both ? and ? thalassemia,the gene carrying rates of the Li and Han were 3.24%and 0.47%,respectively,and the mostly genotyped of Li was-a3.7(Aa)/CD41-42(Aa).A case of thalassemia fusion genotype was identified by globin sequencing,and the genotype was identified as Fusion gene/-a4.2,which was caused by the fusion of ?2 and al segments of the a-globin gene.Family genetic analysis showed that the genotype of his grandfather was Fusion gene/aa,the genotype of the uncle and father were Fusion gene/-a4.2,the genotype of the mother and brother were-?4.2/?ws?ws.Conclusion Hainan Province is a high incidence area of thalassemia,Li was significantly higher than Han in the incidence rate of thalassemia and gene abnormality detection rate,and there are many rare genotype distributions in the Li nationality,which have important genetic resources research value.