广东医学2017，Vol.38Issue(20)：3108-3111,4.
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
摘要
Abstract
Objective To investigate the genotypes of thalassemia and assess sensitivity and specificity of screening 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 diagnostic evaluation on RBC parameters and serum ferritin (SF) for simple thalassemia,thalassemia associated with iron deficiency anemia (IDA) and simple IDA were performed in Hakka population.Results Fourteen genotypes of α-thalassemia were identified in 911 participants,and the most common genotypes were--SEA/αα (178 cases,32.42％),--SEA/-α3.7 (49 cases,8.93％) and--SEA/-α4.2 (34 cases,6.19％).Twelve genotypes of β-thalassemia were found,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 CDl7(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 population in Ganzhou was local characteristics.MCV or MCH which are high sensitivity can be selected in screening thalassemia in high incidence area.The specificity of MCV or MCH combination with SF can be up to 94.12％,88.24％,respectively.When IDA patients,erythrocyte indices are abnormal in familial aggregation or curative effect is poor,they may be the patients with IDA and thalassemia.Therefore they should get tested genetically in case of misdiagnosis.关键词
地中海贫血/基因突变/红细胞参数/铁蛋白Key words
thalassemia/gene mutation/erythrocyte indices/serum ferritin引用本文复制引用
张玉玲,俞钟,赖文鸿,陈小芸,严志民,李海亮..赣州地区地中海贫血基因型特点及筛查项目评价[J].广东医学,2017,38(20):3108-3111,4.基金项目
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) （编号:20132BAB205103）
