论文部分内容阅读
目的报道1例中国人少见的β地中海贫血基因突变CD112(T→A)/N。方法根据血常规平均红细胞体积(MCV)和平均血红蛋白含量(MCH)以及血红蛋白电泳的HbF和HbA2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地贫基因突变CD112(T→A)。结论β地贫基因CD112(T→A)突变的报道丰富了中国人β地贫突变谱,对于指导婚检、产检、遗传咨询具有重要价值。
Objective To report a rare case of Chinese β-thalassemia mutation CD112 (T → A) / N. Methods According to MCV, MCH and HbF and HbA2 of hemoglobin electrophoresis, thalassemia was detected in patients with premarital and antenatal examination, and the gene amplification reverse dot blot was used to detect the patients with suspected β-thalassemia. Common 17 mutations. For those who did not find mutations in the use of gene sequencing. Results The patient carried a rare Chinese β-thalassemia gene mutation CD112 (T → A). Conclusion The report of the mutation of β-thalassemia gene CD112 (T → A) enriches the β-thalassemia mutation spectrum in Chinese, which is of great value in guiding premarital examination, birth control and genetic counseling.