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桂林地区2002例孕妇地中海贫血基因筛查结果分析
引用本文:荆环云,龚蔚蔚,陈洁晶,邹同祥,孙玉峰,谭秋培,吴润强,薛雯,欧明林. 桂林地区2002例孕妇地中海贫血基因筛查结果分析[J]. 中国优生与遗传杂志, 2013, 0(11): 54-55
作者姓名:荆环云  龚蔚蔚  陈洁晶  邹同祥  孙玉峰  谭秋培  吴润强  薛雯  欧明林
作者单位:中国人民解放军第一八一医院中心实验室,广西代谢性疾病研究重点实验室,桂林541002
基金项目:广西重点实验室建设项目计划任务书编号:12-071-32
摘    要:目的统计分析我院2010—2012年产科门诊及住院孕妇地中海贫血基因筛查情况,为本地区地中海防治提供参考依据。方法采用回顾性统计方法,分析我院2002例妊娠妇女筛查结果。结果筛查结果为阳性的患者共341例,占17.03%。其中α-地中海贫血217倒,占10.84%;β-地中海贫血117例,占5.84%;α-地中海贫血复合β-地中海贫血7例,占0.35%。结论本地区地中海贫血发病率高,加强产前筛查,能够减少地中海贫血患儿的出生率,有利于人口素质的提高。

关 键 词:地中海贫血  产前筛查  阳性率

Pregnancy thalassemia gene screening of 2002 cases in Guilin area.
Affiliation:JING Huan - yun, GONG Wei - wei, CHEN Jie - ring, ZHOU Tong - xiang, SUN Yu -feng, TAN Qin - bei, WU Run - qiang, XUE Wen, OU Ming - lin . ( Central Laboratory of Guilin 181 st Hospital, Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, 541002, China)
Abstract:Objective: To prevent and control thalassemia, statistical analysis of gene screening of thalassemia was performed in our hospital during 2010 -2012. Methods: The statistical analysis of 2002 cases of pregnant women in our hospital was conducted by retrospective statistical method. Results : a total of 341 cases was diagnosed as positive ( 17.03% ) ; in these cases, 217 cases was di- agnosed as α- thalassemia (10. 84% ), 117 cases was diagnosed as β-thalassemia (5.84%), 7 cases as diagnosed as α and β- thalassemia (0. 35% ). Conclusions: Guilin is an area with high incidence of thalassemia, prenatal screening may be necessary to re- duce the birth rate of thalassemia and improve population quality.
Keywords:Thalassemia  Prenatal screening  Positive ratio
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