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目的 调查乐山地区人群中α和β地中海贫血(简称地贫)的发生率、基因缺陷类型及频率,为该地区进一步开展地贫基因产前诊断,有效预防重型地贫患儿出生及优生优育事业的发展奠定基础.方法 随机抽取2岁以上乐山地区常住人口3 500例进行地贫筛查;对筛查阳性的受检者采集其血样进行地贫基因检测,对基因型频率分布进行调查.结果 在3 500份外周血标本中,地贫筛查阳性者341例,初筛阳性检出率为9.74％.经基因分析和鉴别诊断,确诊地贫基因携带者201例,地贫基因携带率为5.74％.检出α地贫109例,人群α地贫发生率为3.11％,发现12种基因型;检出突变型β地贫98例,人群β地贫发生率为2.80％,发现13种基因型,其中6例为β地贫合并α地贫,占β地贫比例为6.12％.结论 ①乐山地区人群中α和β地贫的基因携带率均较高;②在贫血患者中应考虑地贫的可能;③在婚检、备孕及已孕夫妇中应进行地贫的筛查和诊断,必要时对胎儿进行产前诊断.“,”Objective To investigate the incidence rates, types and frequencies of gene defects of α-thalassemia and β-thalassemia in Leshan area, lay the foundation for further prenatal diagnosis of Mediterranean anemia genes in the area, effective prevention of the birth of neonates with severe Mediterranean anemia, and development of eugenics. Methods A total of 3 500 permanent residents more than two years old were selected for Mediterranean anemia screening, the persons with positive result further underwent Mediterranean anemia gene screening of blood samples, the frequency distribution of genotypes were surveyed. Results Among 3 500 persons, 341 cases were found with positive result of Mediterranean anemia screening, the detection rate was 9.74％. A total of 201 cases were diagnosed as carriers of editerranean anemia genes after gene analysis and differential diagnosis, the carrying rate was 5.74％. A total of 190 cases were diagnosed as α-thalassemia, the incidence rate was 3.11％, 12 genotypes were found; 98 cases were diagnosed as β-thalassemia, the incidence rate was 2.80％, 13 genotypes were found. Six cases were found with α-thalassemia complicated with β-thalassemia, accounting for 6.12％ of the cases with β-thalassemia. Conclusion The carrying rates of α-thalassemia and β-thalassemia genes in Leshan area are relatively high. Mediterranean anemia should be considered in patients with anemia. Screening and diagnosis of Mediterranean anemia in the couples undergoing premarital examination, preparing for pregnancy, and pregnant couples should be carried out, prenatal diagnosis should be carried out if necessary.