目的：调查广东省乳源县瑶族人群中的α和β地中海贫血（简称地贫）的携带率、基因突变类型及其分布特征。方法连续收集905例父母双方或一方为广东省乳源县瑶族人群的新生儿脐带血及1347例广东省乳源县瑶族人群婚检育龄成人的外周血分别进行α和β地贫调查；所有样品均进行RBC参数和血红蛋白电泳分析，对比各项检验指标。结果在905例脐带血样本中，检出Hb Bart's阳性样品52例；经基因分析，91例被确定了α地贫基因型（含92个突变等位基因，其中－－SEA／43例、－α3.7／33例、－α4.2／9例、αWSα／2例、αCSα／3例、αQSα／1例）。值得注意的是，有38例－α3.7／αα和－α4.2／αα基因携带者检出自Hb Bart's阴性样品。结论研究为进行遗传咨询和制定该地区基于人群筛查的α和β地贫预防计划提供了有价值的基础资料。%Objective To investigate the ruyuan county of guangdong province yao population of alpha and beta thalassemia anemia ( thalassemia) the carrying rate, gene mutation types and their distribution features.Methods The 905 cases both parents or one of the parties for guangdong province ruyuan yao county population in the cord blood of neonate and 1 347 cases in ruyuan county, guangdong province yao crowd premarital childbearing age adult peripheral blood were alpha and beta thalassemia survey; all samples were performed in RBC parameters and hemoglobin electrophoresis analysis, comparison of various test indicators.Results In the 905 cases of umbilical cord blood samples, the detection of Hb Bart's positive samples of 52 cases; was confirmed by gene analysis, 91 cases was determined alpha thalassemia gene (with 92 mutant allele, which --SEA/in 43 cases of, alpha 3.7/33 cases, -alpha 4.2/9 cases, alpha WS alpha/2 cases, alpha CS alpha/3 cases, alpha QS alpha/1).It is worth noting that there are 38 cases of positive 3.7/4.2/alpha Hb alpha gene carriers were detected in the negative samples of Bart's.Conclusion This study for genetic counseling and the establishment of alpha and beta thalassemia screening based on prevention programs provide a valuable basis.
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