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作 者:韦松晓 潘美秀 麦莹莹 黎凤元 覃炜玲[1] 李丹 陈秀勤[1] 梁伟[1] WEI Songxiao;PAN Meixiu;MAI Yingying;LI Fengyuan;QIN Weiling;LI Dan;CHEN Xiuqin;LIANG Wei(Department of Laboratory Medicine,Wuzhou Red Cross Hospital,Wuzhou,Guangxi,China,543000)
机构地区:[1]梧州市红十字会医院检验科,广西梧州543000
出 处:《分子诊断与治疗杂志》2022年第8期1446-1449,1454,共5页Journal of Molecular Diagnostics and Therapy
基 金:广西卫健委自筹经费课题(Z20190727)。
摘 要:目的分析不同缺失型α⁃地中海贫血(地贫)的血液学表型特征,比较其引起小细胞及低血红蛋白的程度与受影响的α⁃珠蛋白基因的数量的关系,探讨血液学参数(RBC、HGB、MCV、MCH、MCHC和RDW)对缺失不同数量的α⁃地贫的筛查价值。方法选取本院于2017年4月至2020年4月期间经基因确诊为缺失型α⁃地贫的370例患者为研究对象,根据α珠蛋白基因缺失数目不同分为-α/αα、(--⁃/αα,⁃α/⁃α)、--⁃/⁃α和--/--共四组,分析确诊的缺失型α⁃地贫患者的血液学数据,绘制受试者工作特征(ROC)曲线,确定缺失不同α基因数量的α⁃地贫的血液学参数的最佳截断值,分析血液学指标在缺失型α⁃地贫中的筛查价值。结果缺失型α⁃地贫基因类型以--^(SEA)/αα最常见(61.62%)。缺失不同α基因数量的患者血液学参数与正常对照组比较,差异有统计学意义(P<0.05)。健康人群的MCV>83.8 fl及MCH>27.6 pg。缺失1个α基因者,MCV在74.9~83.8 fl之间,MCH在23.8~27.6 pg之间。缺失2个α基因者,MCV在62.9~74.9 fl之间,MCH在18.7~23.8 pg之间。缺失3个α基因者,MCV小于62.9 fl,MCH小于18.7 pg,另外RDW>18.8%。结论MCV和MCH是有效鉴别α基因缺失数量的指标,可初步区分不同亚型的缺失α⁃地贫。Objective To analyze the hematological phenotypic characteristics of different deletion typesα-thalassemia and to compare the relationship between the degree of small cell and low hemoglobin and the number of affectedα-globin genes.To explore the screening value of hematological parameters(RBC、HGB、MCV、MCH、MCHC and RDW)for different amounts ofα-thalassemia.Methods A total of 370 patients with deletionalα-thalassaemia who were genetically diagnosed in our hospital from April 2017 to April 2020 were selected as the research objects.(/αα,-α/-α),--/-α and --/--a total of four groups,the hematological data of patients with confirmed deletionα-thalassaemia were analyzed,and the receiver operating characteristic(ROC)curve was drawn,to determine the optimal cut-off value of hematological parameters ofα-thalassemia mssing differentαgene numbers,and to analyze the screening value of hematological indexes in missing α-thalassaemia.Results The deletion typeα-thalassemia geno type was the most common with SEA/αα(61.62%).Compared with the normal control group,the hematological parameters of patients with deletion of differentαgene numbers were significantly different(P<0.05).MCV>83.8 fl and MCH>27.6 pg in healthy population.The MCV ranged from 74.9 to 83.8 fl,and the MCH ranged from 23.8 to 27.6 pg for those who lacked oneαgene.For those who lacked twoαgenes,the MCV ranged from 62.9 to 74.9 fl,and the MCH ranged from 18.7 to 23.8 pg.For those with deletion of 3αgenes,the MCV was less than 62.9 fl,the MCH was less than 18.7 pg,and the RDW was>18.8%.Conclusion MCV and MCH are effective indicators to identify the number ofαgene deletions,and can preliminarily distinguish different subtypes of deletionα-thalassemia.
分 类 号:R556.61[医药卫生—血液循环系统疾病]
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