云南省德宏州傣族育龄人群地中海贫血流行病学调查  

Epidemiological investigation of thalassemia in gestational age population of Dai nationality in Dehong Prefecture,Yunnan Province

作　　者：滕聪聪 徐咏梅 唐树萍 李勇 杨阳 龙岚 张杰[5] TENG Cong-cong;XU Yong-mei;TANG Shu-ping;LI Yong;YANG Yang;LONG Lan;ZHANG Jie(Department of Medical Genetics,the Affiliated Hospital of Medical School,Kunming University of Science and Technology,Kunming 650031;Department of Laboratory Medicine,Dehong Maternity and Child Health Hospital,Dehong 678400;Department of Obstetrics and Gynecology,Dehong Maternity and Child Health Hospital,Dehong 678400;Department of Public Health Management,Dehong Maternity and Child Health Hospital,Dehong 678400;Department of Medical Genetics,the First People􀆳s Hospital of Yunnan Province,Kunming 650032,China)

机构地区：[1]昆明理工大学医学院附属医院医学遗传科,云南昆明650031 [2]德宏州妇幼保健院检验科,云南德宏678400 [3]德宏州妇幼保健院妇产科,云南德宏678400 [4]德宏州妇幼保健院公共卫生管理科,云南德宏678400 [5]云南省第一人民医院医学遗传科,云南昆明650032

出　　处：《基础医学与临床》2022年第10期1504-1508,共5页Basic and Clinical Medicine

基　　金：国家自然科学基金(81860040)。

摘　　要：目的了解云南省德宏地区傣族育龄人群地中海贫血(地贫)的基因携带率、基因突变类型及其血液学特征。方法应用二代测序技术对德宏地区傣族育龄人群进行地贫基因检测,采用血红蛋白电泳和血常规检测血液学特征,对血液学特征进行统计,分析血常规筛查的敏感性及特异性。结果在591例受检者中检出地中海贫血携带者289例,其中α⁃地贫基因突变携带率为39.09%(231/591),β⁃地贫基因突变携带率为15.06%(89/591)。研究共检出5种α⁃地贫基因突变类型和7种β⁃地贫基因突变类型。α⁃地贫突变基因型中,_(⁃⁃)SEA的平均红细胞体积(MCV)和平均血红蛋白含量(MCH)偏低,基因型α^(CS)α的Hb A_(2)偏低(P<0.05)。β⁃地贫突变基因型中,CD 26(G>A)的MCH偏高,Hb A偏低(P<0.05)。在血常规筛查地贫中,当MCV的截断值为83􀆰55 fL时,具有最大约登指数;当MCH的截断值为27.95 pg时,具有最大约登指数。结论德宏傣族育龄人群地贫突变基因携带率较高,基因突变以-α^(3.7)和CD 26(G>A)较为常见。Objective To investigate the gene carrying rate,gene mutation type and hematological characteristics of thalassemia in Dai nationality population of Dehong Prefecture,Yunnan Province.Methods A total of 591 Dai na⁃tionality gestational age population in Dehong were tested for thalassemia gene by next⁃generation sequencing tech⁃nology.The sensitivity and specificity of the hemoglobin electrophoresis and blood routine tests were performed.Results A total of 289 cases(48.90%)were positive for thalassemia gene.Among them,231 cases were classified asα⁃thalassemia(39.09%)and 89 cases wereβ⁃thalassemia(15.06%).Fiveα⁃thalassemia genotypes and sevenβ⁃thalassemia genotypes were detected.Forα⁃thalassemia,⁃^(⁃SEA) showed comparatively lower values for MCV and MCH;α^(CS)αshowed comparatively lower values for Hb A2(P<0.05).For theβ⁃thalassemia,CD 26(G>A)had significantly lower Hb A values,and higher MCH values(P<0.05).A new cut⁃off value for the thalassemia with the highest accuracy was proposed(MCV 83􀆰55 fL,MCH 27.95 pg).Conclusions Thalassemia is common in Dai na⁃tionality population of Dehong.The most frequently identified types are-α^(3.7) and CD 26(G>A).

关 键 词：地中海贫血 傣族 基因突变 血液学特征 流行病学调查 

分 类 号：R394[医药卫生—医学遗传学]