Abstract：ObjectiveTo understand the types of thalassemia genemutations in the couples during pregnancy and their fetuses in Guizhou Region and to provide reference data for the genetic consultation of thalassemia in our province.MethodsData were collected on the patientswhowere given prenatal diagnosis of thalassemia in the Prenatal Diagnosis Center of the Affiliated Hospital of Guizhou Medical University and Guizhou People′s Hospital from October 2012 to October 2014.Screening was performed by routine blood test and hemoglobin electrophoresis test,and the genotyping of thalassemia was performed by RDB and PCR.Results①In the data of 82 patients,26 cases ofα-thalassemia were detected,accounting for 31.7%.Themost common deletion type-α thalassemia in the Chinese people(-SEA,α3.7,α4.2)was detected;56 cases ofβ-thalassemia were detected，accounting for 68.3%.The seven genetic types ofmutations that were common in the Chinese people were detected,with themost common types of CD17(A→T),CD41-42(-TCTT),and IVS-2-654(C→T).②There were 51 coupleswho both carried α-thalassemia orβ-thalassemia according to the genetic diagnosis.Prenatal genetic diagnosis was carried out by collecting cord blood or amniotic fluid.There were 33 cases of fetuseswith prenatal diagnosis ofmild thalassaemia,10 cases of fetuseswith negative thalassemia,and 8 cases of fetuses with moderate to severe thalassemia.Among them,there were 5 cases of fetuses with severeβ-thalassemia according to the prenatal diagnosis.One case of fetus was bart′s edema,and two cases of fetuses had hemoglobin H disease.All of them were given themeasures to terminate the pregnancy.ConclusionThere is a significant difference in the incidence rate of thalassemia.However,there are similar trends in the rates of genemutation.Among them,the detection rate ofβthalassemia carriers is significantly higher than that ofα-thalassemia carriers;through prenatal screening,the birth of the infantswith severe and intermediate thalassaemia can be avoided.
吴莎莎;何志旭;金皎;黄璟;袁军. 贵州地区82例地中海贫血产前筛查基因诊断结果分析[J]. 中国当代医药, 2018, 25(16): 124-126.
WU Sha-sha;HE Zhi-xu;JIN Jiao;HUANG Jing;YUAN Jun. Analysis on the results of genetic diagnosis of 82 cases of thalassem ia in prenatal screening in Guizhou. 中国当代医药, 2018, 25(16): 124-126.
Xu XM，Zhou YQ，Luo GX，et al.The prevalence and spectrum of alpha and beta thalassaemia in Guandong Province：implications for the future health burden and population screening[J].JClin Pathol，2004，57（5）：517-522.
[3]
Pan HF，Long GF，Li Q，et al.Current status of thalassemia inminority population in Guangxi，China[J].Clin Genet，2007，71（5）：419-426.
Galbiati S，Brisci A，Damin F，et al.Fetal DNA in maternal plasma：a noninvasive tool for prenatal diagnosis of betathalassemia[J].ExpertOpin BiolTher，2012，12（Suppl1）：S181-187.
[10]
Firdous N，Gibbons S，Modell B.Falling prevalence of betathalassemia and eradication ofmalaria in the Maldives[J].J Community Gent，2011，2（3）：173-189
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