Analysis Of Gene Mutation, Population Distribution And Prenatal Diagnosis In4830Cases With Thalassemia

Objective：In order to prevent the birth rates of thalassemia major andthalassemia intermedia in Guangxi province, this paper aims to investigate thesignificance of thalassemia gene mutations frequency，ethnic differences, and tounderstand the thalassemia gene distribution and mutation type.Methods: Retrospective analysis of gene types, regional distribution, racialdistribution and prenatal results who were diagnosed as thalassemia carrier inthe First Affiliated Hospital of Guangxi medical university from January2007toDecember2011. SPSS17.0statistical software was used for analysis.Results：In4830patients of the thalassemia carrier,53.54%of the caseswere with α-thalassemia,39.13%were with β-thalassemia,7.16%were withα-thalassemia combined with β-thalassemia, and0.17%were with structuralhaemoglobin variants. In Guangxi, thalassemia were common in Zhuang, Hanand Yao ethnic groups and only scattered cases were reported in other ethnicgroups. Comparison of the frequencies of mutations among the alpha-thalassemia showed that there was a statistically significant difference betweenthe Zhuang (29.55%), Han (22.48%) and Yao（1.16%）. And there was a similar mutation trend in the three ethnic groups. And beta-thalassemia groups alsoshowed a statistically significant difference between the Zhuang (18.67%), Han(19.63%) and Yao（0.66%）. And the three ethnic group’s mutations showedstatistically significant difference. Thalassemia has a significant regionaldistribution, of which Nanning and surrounding counties were common. In2415couples,44.97%were diagnosed as thalassemia in first trimester of gestation bychorionic villus sampling,51.06%by amniocentesis in mid trimester and bycordocentesis in the second and the third trimester of gestation.145cases wereHbH fetus,169had Bart’s edema,258were major or intermedia β-thalassemia.Conclusion:The thalassemia gene mutations have the same trend, but thefrequency were different, alpha-thalassemia detection rate was higher thanβ-thalassemia. The differences in the distribution of regional and ethnic groupswere statistically significant. Prenatal diagnosis can effectively avoid the birth ofabnormal fetuses. The prenatal diagnosis of thalassemia are effective measuresfor prevention and control work.