摘要
目的分析1201例静止型α-珠蛋白生成障碍性贫血的基因型及血液学表型特征。方法采用PCR-流式荧光杂交法确定云南省德宏地区静止型α-珠蛋白生成障碍性贫血携带者的基因型,采用血常规检测获取血液学表型,统计分析各血液学指标。结果1201例静止型α-珠蛋白生成障碍性贫血携带者中检出-α^(3.7)/αα、-α^(4.2)/αα、αα^(CS)/αα及αα^(WS)/αα这4种基因型,其中以缺失型-α^(3.7)/αα(83.51%)和突变型αα^(CS)/αα(11.16%)最为常见。血红蛋白(Hb)、平均红细胞体积(MCV)、平均红细胞血红蛋白量(MCH)对静止型α-珠蛋白生成障碍性贫血的诊断价值,灵敏度和准确度较低。在育龄人群中,非缺失型(αα^(CS)/αα、αα^(WS)/αα)的Hb水平低于缺失型(-α^(3.7)/αα、-α^(4.2)/αα),女性携带者Hb水平低于男性,贫血比例高于男性,差异均有统计学意义(P<0.05)。结论云南省德宏地区静止型α-珠蛋白生成障碍性贫血的基因型和血液学表型存在明显的异质性,血常规指标Hb、MCV、MCH对筛查静止型α-珠蛋白生成障碍性贫血的漏检率较高,建议有条件的地方加用基因检测指标。
Objective To analyze the genotype and hematological phenotype characteristics of 1201 patients with staticα-thalassemia.Methods The PCR-flow fluorescence hybridization method was used to determine the genotypes of the carriers of staticα-thalassemia in Dehong area of Yunnan province.Routine blood tests were used to obtain the hematological phenotypes,and the hematological indicators were statistically analyzed.Results A total of 4 genotypes of-α^(3.7)/αα,-α^(4.2)/αα,αα^(CS)/ααandαα^(WS)/ααwere detected in 1201 patients with staticα-thalassemia.The most common genotypes were deletion-α^(3.7)/αα(83.51%)and mutationαα^(CS)/αα(11.16%).Hemoglobin(HB),mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH)had low sensitivity and accuracy in the diagnosis of staticα-thalassemia.In the population of childbearing age,the Hb level of non deletion type(αα^(CS)/αα,αα^(WS)/αα)was lower than that of deletion type(-α^(3.7)/αα,-α^(4.2)/αα),the Hb level of female carriers was lower than that of men,and the proportion of anemia was higher than that of men,the differences were statistically significant(P<0.05).Conclusion There is obvious heterogeneity in genotype and hematological phenotype of staticα-thalassemia in Dehong area of Yunnan province.Hb,MCV and MCH of blood routine have a high missed rate in screening staticα-thalassemia.It is suggested that genetic detection should be added where conditions permit.
作者
张志丹
褚焱
易薇
杨必清
番云华
黄铠
黄小琴
杨昭庆
ZHANG Zhidan;CHU Yan;YI Wei;YANG Biqing;PAN Yunhua;HUANG Kai;HUANG Xiaoqin;YANG Zhaoqing(Department of Medical Genetic,Institute of Medical Biology,Chinese Academy of Medical Sciences/Peking Union Medical College,Kunming,Yunnan 650118,China;Department of General Surgery,the Fourth Affiliated Hospital of Kunming Medical University,Kunming,Yunnan 650021,China;Department of Clinical Laboratory,Dehong Prefrecture People′s Hospital,Dehong,Yunnan 678400,China)
出处
《国际检验医学杂志》
CAS
2021年第7期774-777,共4页
International Journal of Laboratory Medicine
基金
国家重点研发计划项目(2016YFC1201704)
云南省科技计划项目(2016FA048)
云南省高层次卫生健康技术人才项目(L-2018003)。
