Prenatal Diagnosis Of Thalassemia Of The Han People And Li People In Hainan Province Of China

Objective:The purpose of this study was to collect the amniocentesis data of pregnant women with high risk of thalassemia from high-risk Han?both parents are Han?and Li couples?at least one parent is Li?in Hainan Province of China.And then to analyze the detection rate,type of mutations and mutant globin genes in fetuses of Han and Li nationality.Comparing with the prenatal diagnosis data of thalassemia in Guangdong and Guangxi provinces or autonomous regions in China,the differences in fetal thalassemia between the Han and Li nationalities in Hainan Province,and the differences between Hainan and Guangdong,Guangxi were discussed.Through this prenatal diagnosis data,the study results indicated that the regional and ethnic differences in thalassemia,which also provide a guidance for prenatal diagnosis and genetic counseling clinically.Method:This study collected data on prenatal diagnosis of thalassemia in Han people and Li people from 2005to December 2016 in the Reproductive Medical Center of the First Affiliated Hospital of Hainan Medical University.But prenatal diagnosis data of other ethnic groups were not included in this study.The thalassemia genes detected in this study includes three types of deletions and two types of point mutations of?-thalassemia,and 17 common types of?-thalassemia point mutations.According to the Han and Li nationalities,the total number of prenatal diagnoses in each category was counted,and the prenatal diagnosis results were classified according to the Han and Li nationalities.The types of fetal thalassemia mutations?including?-thalassemia,?-thalassemia,and??complex type?and thalassemia mutated genes?including mutation types of?-globin genes and?-globin genes?were counted,and then were analyzed by Chi-Square test using SPSS statistical analysis software according to statistical methods of counting data.In addition,two published studies on prenatal diagnosis of thalassemia in Guangdong and Guangxi were collected,and then we classified the types of thalassemia mutations and mutated genes.Comparing the data of Guangdong and Guangxi with the present study to analyze the difference of fetal thalassemia genotypes and muted genes between Guangdong,Guangxi and Hainan.Results:A total of 536 Han and 588 Li nationalities came to prenatal diagnosis from 2005 to December 2016.Among them,406 of the Han nationality samples carried a thalassemia gene mutation and 500 of the Li nationality samples carried a thalassemia mutation,with the carrying rate of 75.75%and 85.03%respectively.For mutation types,the most common type of?-thalassemia mutation in the Han people of all thalassemia test samples was--^SEA/???17.91%?,the most common?-thalassemia mutation type was CD41-42/N?10.26%?and the most common type of complex thalassemia was-?^3.7/??,CD41-42/N?2.61%?.However the most common?thalassemia mutation type in the Li-thalassemia of all thalassemia test samples was-?^3.7/???9.52%?,the most common beta thalassemia mutation type was CD41-42/N?7.48%?,and the most common type of complex thalassemia was-?3.7/??,CD41-42/N?6.80%?.While for thalassemia muted genes,the most common alpha mutation gene in Han people was--^SEA?58.25%?and the most common beta mutation was CD41-42?74.47%?.However,the most common alpha mutation in the Li people was-?^3.7?34.26%?and the most common?-mutant gene was CD41-42?96.50%?.While the most common?-mutant genes in Guangdong and Guangxi were--^SEA,and the detection rates were 70.17%and 94.70%,respectively.And the?-mutant gene was CD41-42 with the detection rates of 46.15%and 44.36%,respectively.Finally,for the detection of severe thalassemia,it was 75 cases of severe thalassemia?40cases of?-severe thalassemia and 35 cases of?-severe thalassemia?that were detected in Han samples,while in the Li samples,53 cases of severe thalassemia?41 cases of alpha-severe thalassemia and 12 cases of severe beta-severe thalassemia?in total.Conclusion:For the first time,the prenatal diagnosis data were used to analyze the differences in mutation types and mutational genes of?-thalassemia and?-thalassemia between Han and Li nationalities in Hainan Province.Furthermore the results were compared with the prenatal diagnosis data of the thalassemia in Guangdong and Guangxi.The results showed that,for the ethnic differences,the detection rate of the Li nationality was higher than that of the Han nationality in Hainan Province.While in terms of regional differences,the detection rate of?-thalassemia in Hainan was higher than that in Guangdong and Guangxi.The results of this study indicated that mutations in thalassemia have ethnic differences and regional differences.So this study can provide a clinical guidance for the genetic counseling and prenatal diagnosis of the thalassemia,and even the prevention of birth defects in severe thalassemia.