345例αβ复合型珠蛋白生成障碍性贫血血液学和基因型结果分析  

Analysis on hematology and genotypes results in 345 cases of αβ compound thalassemia

作　　者：屈艳霞 袁玉枝 杨烨 江帆 陈桂兰 辜俊梅 李志华[3] 左连东 

机构地区：[1]广州市人口和计划生育科学研究所,510410 [2]广州市番禺区人口和计划生育技术服务站,518000 [3]广州医科大学附属第三医院,广州510150

出　　处：《检验医学与临床》2015年第22期3297-3299,3303,共4页Laboratory Medicine and Clinic

基　　金：国家科技支撑计划资助项目(2006BAI05A02;2012BAI09B01);广东省计生委基金资助项目(2012208;20132031);广东省科技厅科技基础条件建设资助项目(2010B060100014)

摘　　要：目的分析广州地区αβ复合型珠蛋白生成障碍性贫血的临床特征、基因突变类型,为临床遗传咨询提供依据。方法进行血常规参数分析,筛查异常者进行高效液相色谱分析(HPLC)检测,应用跨越断裂点PCR(Gap-PCR)和PCR结合反向杂交(PCR-RDB)技术进行珠蛋白生成障碍性贫血基因分析。夫妇为同型珠蛋白生成障碍性贫血携带者进一步行胎儿珠蛋白生成障碍性贫血基因诊断,产后随访。结果αβ复合型珠蛋白生成障碍性贫血携带者的临床表现和HPLC结果,与单纯β-珠蛋白生成障碍性贫血杂合子携带者无差异;51个同型珠蛋白生成障碍性贫血家庭,经产前基因诊断检出重型β-珠蛋白生成障碍性贫血4例、重型α-珠蛋白生成障碍性贫血7例,均知情选择终止妊娠;产后随访结果均与产前诊断结果相符。结论广州地区人群αβ复合型珠蛋白生成障碍性贫血携带率较高,β-珠蛋白生成障碍性贫血携带者同时进行α、β基因检测,对准确地进行遗传咨询和产前诊断具有重要意义。Objective To investigate the clinical features and gene mutation types ofαβcompound thalassemia to provide the basis for the clinical genetic counseling.Methods The blood routine parameters were analyzed.The individuals with abnormal results were detected by HPLC and the gene analysis of thalassemia was performed by using the gap-polymerase chain reaction（gap-PCR）and PCR combined with the reverse dot blot（PCR-RDB）technology.Husband and wife were the carriers of homotype thalassemia and further performed the gene diagnosis of fetal thalassemia and postpartum follow up.Results The clinical features and the HPLC results in the carriers ofαβcompound thalassemia were similar to those of simpleβ-thalassemia heterozygous carriers.Among 51 families of homotype thalassemia,4cases of severeβ-thalassemia and 7cases of severeα-thalassemia were detected by prenatal gene diagnosis.All cases selected the pregnancy termination after informing;the postpartum follow-up results were consistent with the prenatal diagnosis results.Conclusion The carrying rate ofαβcompound thalassemia is higher among population in Guangzhou area.Simultaneously conducting theαandβgene detection in theβ-thalassemia carriers has an important significance to accurately conduct the genetic counseling and prenatal diagnosis.

关 键 词：α珠蛋白生成障碍性贫血 Β珠蛋白生成障碍性贫血 基因诊断 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]