目的　调查广西西林县新生儿重型β０ 地中海贫血（ 地贫）发生率及其常见的基因突变类型。方法　对１９９１ 年５ 月～１９９７ 年１２ 月在西林县医院妇产科出生的所有２４２３ 名新生儿的脐血采用聚丙烯酰胺凝胶电泳进行β０ 地贫筛查；采用聚合酶链反应和斑点杂交技术进行基因突变型分析。结果　２４２３ 名新生儿中检出重型β０ 地贫７ 例，占全部新生儿的０．２９％ 。其中３ 例基因突变型为ＣＤ１７／ＣＤ１７；２ 例ＣＤ１７／ＣＤ４１４２ ；１ 例ＣＤ４１４２／ＣＤ４１４２ 及１ 例ＣＤ１７／ＩＶＳⅠ１。结论　调查结果为在桂西地区开展产前诊断提供有益资料。聚丙烯酰胺凝胶电泳筛查法简单、可靠，适宜我国基层医院应用。 Objective To investigate the incidence of neonatal heavy β0 thalassemia (Thalassemia) and its common gene mutation types in Xilin County, Guangxi. Methods The umbilical cord blood of all 2423 newborn infants born in the obstetrics and gynecology department of Xilin Hospital from May 1991 to December 1997 was screened by polyacrylamide gel electrophoresis for β0 thalassemia. Polymerase chain reaction Technology for gene mutation analysis. Results Among 2423 newborns, 7 cases of severe β0 thalassemia were detected, accounting for 0.29% of all newborns. Among them, 3 cases were gene mutation type CD17 / CD17; 2 cases CD17 / CD4142; 1 case CD4142 / CD4142 and 1 case CD17 / IVSⅠ1. Conclusion The findings provide useful information for prenatal diagnosis in western Guangxi. Polyacrylamide gel electrophoresis screening method is simple, reliable, suitable for grass-roots hospitals in China.