机构地区:[1]上海交通大学医学院附属瑞金医院检验科,200025
出 处:《中华血液学杂志》2016年第10期908-911,共4页Chinese Journal of Hematology
摘 要:目的通过分析血常规、血清铁含量及血红蛋白电泳对地中海贫血(地贫)检出率的影响,寻找在地贫非高发区高效的联合检测方法。方法抽取上海交通大学医学院附属瑞金医院门诊血液科及妇产科1000例疑诊地贫患者外周血,EDTA抗凝管及血清管。抽提全血DNA,以跨越裂口PCR(GAP-PCR)及反向斑点杂交法进行地贫常见突变基因检测;进行血常规及血红蛋白电泳检测;GAPPCR及Sanger法测序进行稀有α及β地贫基因检测;作血清铁含量测定。结果1 000份标本经常规基因检测,诊断α地贫225例(22.5%),其中静止型28例,标准型138例及HbH病59例;β地贫403例(40.3%),其中β地贫携带者390例,β双重杂合子7例以及β纯合子6例;αβ复合地贫15例(1.5%);未检出常见突变的有357例。1000例患者中红细胞平均体积(MCV)或红细胞平均血红蛋白含量(MCH)增高的有38例,无一例检出地贫基因;血清铁含量增高且MCV不增高的48例患者,42例(87.5%)检出地贫基因;血红蛋白电泳异常的38例患者中35例为HbH病,另3例为HbF含量高的其他类型地贫患者,符合率为100%。1000例患者中,有5例患者血红蛋白电泳异常并伴有MCV及MCH降低、血清铁不低,虽常规基因检测未发现突变,经进一步测序分析,均发现稀有突变。结论MCV及MCH不低于正常参考范围可基本排除地贫,血清铁含量高为地贫提示及分类指标,血红蛋白电泳异常提示地贫可能。此三者联合检查结果均异常而基因检测未显示异常的,建议进一步进行稀有分型的测序分析。三者联合检测可提高非地贫患者的排除率及地贫患者的检出率。ObjectiveTo evaluate the role of combined detections of routine blood test, serum iron and hemoglobin electrophoresis in screening thalassemia in non-high incidence area.MethodsPeripheral blood and serum samples of 1 000 outpatients from the department of hematology and the department of gynecology and obstetrics were obtained. Common mutations of thalassemia were detected by using GAP-PCR and reverse dot blotting, and Sanger sequencing was performed to discover rare mutations of α-and β-thalassemia. Routine blood test, serum iron and hemoglobin electrophoresis were also performed for every patient.ResultsAmong 1 000 samples, 225(22.5%)are detected as α-thalassemia, 403(40.3%)β-thalassemia and 15(1.5%)composite thalassemia. Among 225 α-thalassemia patients, 28 were silent, 138 were intermedia, and 59 were HbH disease. Of 403 β-thalassemia, 390 were carriers, 7 were double heterozygote, and 6 were homozygote. In all samples, there were 357 patients detected with no common mutations, 38 patients had higher result values for both MCV and MCH and none detected with thalassemia gene. There were 48 patients who had higher serum iron but normal or lower MCV, 42 of them(87.5%)had thalassemia gene. Furthermore, 38 patients showed abnormal hemoglobin electrophoresis, 35 of them were HbH disease, while the other 3 were HbF-related thalassemia. Five patients showed abnormal hemoglobin electrophoresis, lower MCV and MCH, as well as higher serum iron, had no frequent mutation but rare ones.ConclusionPatients with higher MCV and MCH can mostly be excluded to have thalassemia, while higher serum iron represents thalassemia possibility and can provide a preliminary indication of thalassemia type, and last but not least abnormal hemoglobin electrophoresis indicates the disease. It is recommended to further carry out sequencing of rare mutations for those who had abnormal results in the combined screening, and detected with no frequent mutation. Combination of these three examinations can improve the detection
关 键 词:地中海贫血 血常规 血清铁 血红蛋白电泳 联合检测
分 类 号:R556.61[医药卫生—血液循环系统疾病]
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