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目的:报道1例稀有β地中海贫血(β地贫)基因突变IVS-Ⅰ-116(T→G)。方法:根据血常规指数和血红蛋白电泳对婚检和产检患者筛查地中海贫血,对可疑β地中海贫血患者采用基因扩增反向点杂交法检测常见17个位点突变。对于未发现常见突变者采用基因测序。结果:患者携带一种中国人少见的β地中海贫血基因突变IVS-Ⅰ-116(T→G)。结论:β地中海贫血基因IVS-Ⅰ-116(T→G)突变的报道丰富了中国人β地中海贫血突变谱,对于指导婚检、产检、遗传咨询具有重要价值。
OBJECTIVE: To report a rare β-thalassemia gene mutation IVS-Ⅰ-116 (T → G). Methods: According to the hematology index and hemoglobin electrophoresis, the 17 cases of thalassemia were screened in both the premarital and the maternity tests, and the 17 common mutations were detected by dot blot hybridization in patients with suspicious β-thalassemia. For those who did not find common mutations in gene sequencing. Results: The patient carried a rare Chinese β-thalassemia gene mutation IVS-Ⅰ-116 (T → G). CONCLUSION: The mutation of β-thalassemia gene IVS-Ⅰ-116 (T → G) enriched the Chinese β-thalassemia mutation profile, which is of great value for guiding premarital examination, birth control and genetic counseling.