CAJ | 학술논문

目的：调查桂西地区产前筛查人群珠蛋白生成障碍性贫血（简称地贫）的基因携带率、基因型及其分布特征。方法回顾性分析2012～2013年桂西地区的右江民族医学院附属医院、百色市人民医院、百色市妇幼保健院共三家医院的以产前筛查为目的的育龄人群地贫检查相关数据，包括血常规、血红蛋白电泳、地贫基因检查等。结果收集到1718例（即859对）夫妇的地贫筛查的相关数据，得出育龄人群中地贫基因携带者651例，地贫总发生率为37．90％，其中α‐地贫347例，发生率为20．20％，β‐地贫304例，发生率为17．70％，α‐地贫复合β‐地贫54例，发生率为3．14％。共检出携带有相同α或β‐地贫基因型的高风险夫妇53对，占参检夫妇对数的6．17％。结论桂西地区产前筛查育龄人群地贫基因携带率近40％，其中α‐地贫基因型以αα／‐‐SEA和αα／‐α3．7为主；β‐地贫基因型以β17M／N和β41‐42M／N为主；此数据可为该地区育龄人群的地贫防控提供支持。
목적：조사계서지구산전사사인군주단백생성장애성빈혈（간칭지빈）적기인휴대솔、기인형급기분포특정。방법회고성분석2012～2013년계서지구적우강민족의학원부속의원、백색시인민의원、백색시부유보건원공삼가의원적이산전사사위목적적육령인군지빈검사상관수거，포괄혈상규、혈홍단백전영、지빈기인검사등。결과수집도1718례（즉859대）부부적지빈사사적상관수거，득출육령인군중지빈기인휴대자651례，지빈총발생솔위37．90％，기중α‐지빈347례，발생솔위20．20％，β‐지빈304례，발생솔위17．70％，α‐지빈복합β‐지빈54례，발생솔위3．14％。공검출휴대유상동α혹β‐지빈기인형적고풍험부부53대，점삼검부부대수적6．17％。결론계서지구산전사사육령인군지빈기인휴대솔근40％，기중α‐지빈기인형이αα／‐‐SEA화αα／‐α3．7위주；β‐지빈기인형이β17M／N화β41‐42M／N위주；차수거가위해지구육령인군적지빈방공제공지지。
Objective To investigate gene carrying rate ,genotype and distribution characteristics of population screening for thalassemia prenatal in western area of Guangxi .Methods Relevant data of population screening for thalassemmia from 2012 to 2013 in Affiliated Hospital of Youjiang Medical University for Nationalities ,People′s Hospital of Baise City and Maternity and Child Care Hospital of Baise City were analyzed retrospectively ,including blood routine examination ,hemoglobin electrophoresis ,thalassemia gene inspection .Results Data of 1 718 cases (859 couples) screening thalassemia were collected ,there were 651 persons carrying thalassemia gene ,the total incidence rate was 37 .90% ,including α‐thalassemia 347 cases (20 .20% ) ,β‐thalassemia 304 cases (17 .70% ) ,α‐thalassemia complex β‐thalassemia 54 cases(3 .14% ) .A total of 53 couples with high risk who were found to carry the same αorβ‐thalassemia gene ,with the incidence rate as 6 .17% .Conclusion Thalassemmia gene carrier rate of persons accept‐ed prenatal screen in western area of Guangxi is nearly 40% ,most of α‐thalassemia genotypes are αα /--SEA andαα/‐α3 .7 ,the proportion was 53 .03% and 15 .27% ,most of β‐thalassemia genotypes are β17N/N andβ41‐42M/N .