| 摘要: |
| ［摘要］ 目的 探讨常规试剂盒检测香港型合并东南亚型缺失地中海贫血（简称地贫）的情况。方法 回顾性分析2012～2019年在该院进行地贫基因诊断的患者28 435例，选出电泳出现三条带（-α3.7、正常对照、--SEA）的标本8例。地贫筛查采用血细胞分析和血红蛋白电泳技术。采用跨越断裂点PCR（Gap-PCR）检测α缺失型地贫基因，反向斑点杂交检测α非缺失型地贫基因（使用两个生产厂家的试剂盒）。用两轮巢式PCR检测HKαα地贫基因。结果 常规地贫基因检测试剂盒（Gap-PCR）筛查出三条带的患者基因型均为HKαα/--SEA，占地贫基因诊断的0.03%。HKαα/--SEA的血液学表型主要体现在红细胞平均体积（MCV）和红细胞平均血红蛋白含量（MCH）下降，未见贫血，HbA2多数在参考范围内。结论 常规地贫基因检测试剂盒（Gap-PCR）可以筛查出HKαα/--SEA，为遗传咨询和产前诊断提供指导依据。 |
| 关键词: 地中海贫血 香港型地贫基因（HKαα） 东南亚型缺失（--SEA） |
| DOI：10.3969/j.issn.1674-3806.2020.10.07 |
| 分类号:R 556.6+1 |
| 基金项目:广西卫健委科研课题（编号：Z20200076） |
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| Screening and identifying the HKαα in combination with Southeast Asia deletion thalassemia |
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LIANG Liang, ZHAO Lin, TIAN Mao, et al.
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Center for Medical Genetics and Prenatal Diagnosis, the People′s Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China
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| Abstract: |
| ［Abstract］ Objective To investigate the detection of the HKαα in combination with Southeast Asia deletion thalassemia using routine thalassemia gene kits. Methods Twenty-eight thousand four hundred and thirty-five patients receiving thalassemia gene diagnosis in our hospital from 2012 to 2019 were retrospectively analyzed. Among the 28 435 patients, eight samples with three bands(-α3.7, normal α2 alleles and --SEA) appearing in the agarose electrophoresis were selected. Blood cell analysis and hemoglobin electrophoresis were used in screening thalassemia. Gap polymerase chain reaction(Gap-PCR) was used to detect deletions of α-thalassemia genes, and PCR-reverse dot blot hybridization was used to detect non-deleted α-thalassemia genes(using two manufacturers′ kits). HKαα was identified by two-round nested PCR. Results The genotypes of the patients with three bands screened out by using routine thalassemia gene kit(Gap-PCR) were identified as HKαα/--SEA, accounting for 0.03% of the thalassemia gene diagnosis. The hematological phenotype of HKαα/--SEA was mainly reflected in the decrease of mean corpuscular volume(MCV) and mean corpuscular hemoglobin(MCH), and no anemia was found, and most of HbA2 was in the reference range. Conclusion The routine thalassemia gene testing kit(Gap-PCR) can effectively screen out HKαα/--SEA genotype, providing guidance for genetic counseling and prenatal diagnosis. |
| Key words: Thalassemia HKαα --SEA |
