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《Chongqing Medicine》 2017-10
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Analysis on prenatal gene diagnosis in 49 cases carrying same type thalassemia

Jiang Kean;Liu Dongyun;Chen Xia;Li Xueqi;Jia Chaoli;Huang Guoning;Genetic and Reproductive Institute,Chongqing Municipal Health Center for Women and Children;  
Objective To explore the effective means and important significance for preventing the born of neonatal patients with severe thalassemia.Methods Among the pregnant women and spouses receiving prenatal examination in our hospital from January 2013 to December 2015 were performed the thalassemia screening and gene diagnosis,49 couples carrying the same type thalassemia were conducted the prenatal amniotic fluid thalassemia gene diagnosis and follow up after prenatal diagnosis.Results In49 couples carrying the same type thalassemia,the main gene mutation types ofα-thalassemia detected by the gene diagnosis were--~(SEA)/αα(50.0%),-α~(3.7)/αα(36.5%)and-α~(4.2)/αα(11.5%),which ofβ-thalassemia were CD17/N(42.0%),CD41-42/N(26.0%)and IVS-Ⅱ-654/N(22.0%).The results of prenatal diagnosis showed that there were 4cases of HbH disease,2cases of Bart′s hydrops fetus,10 cases of severeβ-thalassemia,19α-thalassemia carriers,10β-thalassemia carriers,1case of co-inheritance ofα-andβ-thalassemia,and 3health fetuses.The follow up results were consistent with those of prenatal diagnosis.Conclusion Conducting prenatal screening and diagnosis of thalassemia in pregnant women can effectively prevent the birth of neonatal patients with severe thalassemia.
【CateGory Index】: R714.5;R440
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