赣州地区地中海贫血基因型特点及筛查项目评价  

The genotypes of thalassemia and appraisal for the screening project on thalassemia among population in Ganzhou

作　　者：张玉玲 俞钟 赖文鸿[2] 陈小芸[2] 严志民[2] 李海亮[2] ZHANG Yu - ling YU Zhong LAI Wen - hong CHEN Xiao - yun YAN Zhi - rain LI Hai - liang(The first clinical medical institute, Gannan Medical University, Ganzhou 341000, Jiangxi , China)

机构地区：[1]赣南医学院第一临床医学院,江西赣州341000 [2]赣南医学院第一附属医院血液科,江西赣州341000

出　　处：《广东医学》2017年第20期3108-3111,共4页Guangdong Medical Journal

基　　金：江西省自然科学基金资助项目(编号:20132BAB205103);江西省卫生厅科技计划项目(编号:20131088)

摘　　要：目的以红细胞参数(MCV、MCH、MCH)联合血清铁蛋白(SF)作为筛查指标,结合基因检测,了解赣州地区地中海贫血(地贫)患者的基因类型,评价各项筛查指标的敏感性及特异性。方法选择疑似地贫911例,进行血细胞分析、SF检测、地贫基因检测,统计分析地贫患者基因型分布,比较红细胞各参数、SF在地贫筛查中的敏感性及特异性。结果 911例受检者中检测出地贫549例,检出率60.26%,α复合β地贫19例,α-地贫322例,共14种α-地贫基因型,前3种分别是:Objective To investigate the genotypes of thalassemia and assess sensitivity and specificity of screen- ing project on thalassemia by erythrocyte indices, serum ferritin（SF） and gene detection among population in Ganzhou, Jiangxi. Methods From January 2013 to August 2016, 911 subjects underwent thalassemia screening at the Department of Hematology of the First Affiliated Hospital of Gannan Medical University were included. Genotypes of thalassemia were analyzed, and RBC parameters and serum ferritin （SF） were calculated in Hakka population with thalassemia. The diag- nostic evaluation on RBC parameters and serum ferritiu （SF） for simple thalassemia, thalassemia associated with iron defi- ciency anemia （IDA） and simple IDA were performed in Hakka population. Results Fourteen genotypes of α- thalasse- mia were identified in 911 participants, and the most common genotypes were --SEA/CtCt （178 cases, 32.42% ）,-- SEA/ -α3.7 （49 cases, 8.93% ） and -- SEA/α4.2 （34 cases, 6. 19% ）. Twelve genotypes of β - thalassemia werefound, and the most common genotypes were IVS - II - 654 （C 〉 T）/N （94 cases, 17.12% ） and CD41 - 42（ - TTCT）/N （71 cases, 12. 93% ） and CD17（ A 〉 T）/N（ 13 cases, 2. 37% ）. The sensitivity of MCV, MCH and MCV plus MCH, which were 94.07% , 96.05% , 93.5% , were higher than MCHC, MCV plus SF, MCH plus SF and MCHC plus SF（P 〈0. 05）. The specificity of MCV plus SF and MCHC plus SF were 94. 12% and higher than MCH and MCV plus MCH（P 〈0. 05）. There was no difference between MCV plus SF, MCHC plus SF and MCV, MCHC, MCH plus SF in specificity. MCV in patients with thalassemia associated with IDA was lower than in those with simple IDA. MCV, MCH and MCHC in patients with thalassemia associated with IDA were lower than in those with simple thalassemia. SF in patients with thalassemia associated with IDA and simple IDA patients were lower than in those with simple thalassemia （ P 〈 0. 05 ）. Conclusion Genotype of thalassemia in Hakka popu

关 键 词：地中海贫血 基因突变 红细胞参数 铁蛋白 

分 类 号：R512.62[医药卫生—内科学]