目的报道1例中国人少见的β地中海贫血基因突变及其产前诊断结果。方法采用PCR产物直接DNA序列分析法对1例父亲和胎血标本进行检测。结果父亲和胎儿均携带一种中国人少见的β地中海贫血基因突变CD 37(TGG→TGA)。结论β地中海贫血基因37(TGG→TGA)突变的报道,丰富了中国人β地中海贫血基因突变谱,对于指导人群筛查、遗传咨询和产前诊断具有重要价值。 Objective To report a rare case of Chinese β-thalassemia gene mutation and its prenatal diagnosis. Methods One sample of father and fetal blood was detected by PCR direct DNA sequencing. Results Both father and fetus carried a rare Chinese β-thalassemia gene mutation, CD 37 (TGG → TGA). Conclusion The report of the mutation of β-thalassemia gene 37 (TGG → TGA) enriched the Chinese β-thalassemia gene mutation spectrum, which is of great value in guiding the population screening, genetic counseling and prenatal diagnosis.