【摘要】 目的:研究β-珠蛋白基因启动子区-38G>A基因突变导致β-地中海贫血的临床特征以及基因型-表型相关性。方法:收集2019年7月至2020年1月在广西医科大学第一附属医院就诊的确诊为β-地中海贫血的病例412例,应用血细胞自动分析仪进行血常规检测,血红蛋白（Hb）分析仪进行Hb分析,荧光PCR熔解曲线法及DNA测序检测β-珠蛋白基因突变类型。结果:在412例β-地中海贫血病例中检出1例新的β-珠蛋白基因-38G>A（HBB:c.-88 G>A）杂合子突变,该病例轻度贫血,无黄疸、肝脾肿大,无输血史;血常规结果:Hb 108.8 g/L,红细胞计数（RBC）5.85×10¹²/L,红细胞平均容积（MCV）62.51fL,红细胞平均血红蛋白（MCH）18.61 pg,红细胞平均血红蛋白浓度（MCHC）297.7 g/L,血细胞比容（HCT）0.365;Hb分析结果:血红蛋白A2（HbA2） 3.5%,胎儿血红蛋白（HbF）0.6%。结论:首次发现β-珠蛋白基因启动子-38G>A突变导致β-地中海贫血,其致病机制可能是影响与转录因子或者结合蛋白的结合,从而影响转录起始速率。其杂合子表现为轻度贫血,HbA2稍升高,为轻型β-地中海贫血。更多还原

【Abstract】 Objective: To study the clinical characteristics and genotype-phenotypic correlation of β-thalassemia caused byβ-globin gene promoter region-38 G>A gene mutation.Methods: A total of 412 patients with β-thalassemia diagnosed in The First Affiliated Hospital of Guangxi Medical University from July 2019 to January 2020 were collected. Blood routine test was performed with automatic blood cell analyzer, Hb analysis was conducted by hemoglobin（Hb） analyzer, fluorescent PCR melting curve and DNA sequencing were used to detect the mutation type of β-globin gene.Results: A new heterozygous mutation of β-globin gene-38 G>A（HBB:c.-88 G>A）was detected in 412 cases of β-thalassemia,this case had mild anemia, no jaundice, hepatosplenomegaly and no history of blood transfusion. Blood routine results: the Hb was 108.8 g/L, red blood cell count（RBC） was 5.85×10¹²/L, mean corpuscular volume（MCV） was 62.51 fL, mean corpuscular hemoglobin（MCH） was 18.61 pg,mean corpuscular hemoglobin concentration（MCHC） was 297.7 g/L, hematocrit（HCT） was 0.365. HB analysis results: hemoglobin A2（HbA2） was 3.5%, fetal hemoglobin（HbF） was 0.6%.Conclusion: It is found for the first time that β-globin gene promoter-38 G > A mutation leads to β-thalassemia. The pathogenic mechanism may be related to the effect of binding to transcription factors or binding proteins, thereby affecting the transcription initiation rate. The heterozygote show mild anemia and slightly increased HbA2, which was mild β-thalassemia.更多还原