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目的探讨湛江地区α-、β-珠蛋白生成障碍性贫血基因型的分布特点。方法选择2013年1月至2014年12月该院检验科PCR室检测的1 722例婚检、孕检、疑似患者的珠蛋白生成障碍性贫血患者临床资料进行基因分型。α-、β-珠蛋白生成障碍性贫血基因检测采用PCR联合膜杂交法。结果1 722例受检标本中共检测出珠蛋白生成障碍性贫血213例,检出率12.37%,其中α-珠蛋白生成障碍性贫血150例,占8.71%,最常见的基因型是东南亚型基因缺失--SEA、右侧缺失型-α3.7、左侧缺失型-α4.2,占α-珠蛋白生成障碍性贫血的52.67%、22.00%、8.67%;β-珠蛋白生成障碍性贫血63例,占3.66%,最常见的基因突变型是CD41-42M、CD17/N、IVS-Ⅱ-654/N,占β-珠蛋白生成障碍性贫血的41.27%、14.29%、12.69%。结论湛江地区珠蛋白生成障碍性贫血检出率在广东省较高,以--SEA和-α3.7缺失型α-珠蛋白生成障碍性贫血为主,其次是β-珠蛋白生成障碍性贫血CD41-42M突变型,β-珠蛋白生成障碍性贫血明显高于广东省平均水平。为该病的防治、遗传咨询、携带者筛查、优化产前诊断。
Objective To explore the distribution characteristics of α-β-globin aplastic anemia in Zhanjiang area. Methods From January 2013 to December 2014, the clinical data of 1 722 pre-marital, pregnancy-tested and suspected patients with globin-producing anemia were genotyped by the laboratory PCR room. Alpha-, beta-globin aplastic anemia gene detection using PCR combined with membrane hybridization. Results Totally 213 cases of gemcitabine anemia were detected in 1 722 samples, the detection rate was 12.37%, of which 150 cases were α-globin aplasia (8.71%). The most common genotype was southeast Asia Deletion --SEA, right deletional-α3.7, left deletional -α4.2, accounting for 52.67%, 22.00%, 8.67% of α-globinogenic anemia; β-globinogenic anemia 63 cases, accounting for 3.66%. The most common gene mutations were CD41-42M, CD17 / N and IVS-Ⅱ-654 / N, accounting for 41.27%, 14.29% and 12.69% of patients with β-thalassemia. Conclusions The detection rate of globin aplastic anemia in Zhanjiang is higher in Guangdong Province, with the -SEA and -α3.7 deletion type α-globin aplasia, followed by β-globinogenic anemia CD41-42M mutation, β-globin aplastic anemia was significantly higher than the average of Guangdong Province. For the prevention and treatment of the disease, genetic counseling, screening carriers, optimizing prenatal diagnosis.