云南省文山壮族苗族自治州地中海贫血筛查及基因诊断结果分析

Thalassemia Screening and Genetic Diagnosis Results Analysis in Wenshan Zhuang-Miao Autonomous Prefecture,Yunnan Province

了解云南省文山壮族苗族自治州广南、富宁两县地中海贫血(地贫)的筛查阳性率、突变类型以及血液学特征,为地贫防控工作提供一定的参考依据.对文山州广南、富宁两县431例儿童(0~7岁)及育龄人群(18~45岁)样本,登记个人信息,进行血常规检测、血红蛋白电泳分析、珠蛋白基因二代测序,统计分析结果.结果显示,431例人群样本中,有壮族、苗族、汉族、瑶族、彝族、白族人群,其中壮族人群样本最多.431例样本共检出176例地贫携带者,阳性率为40.84%(176/431).α-地贫携带者有85例,阳性率为19.72%(85/431),其中最为常见的基因突变类型首先是αα/^(--SEA),其次是αα/-α^(3.7).β-地贫携带者有72例,阳性率是16.71%(72/431),其中最为常见的基因突变类型首先是CD17(A>T),其次是CD41/42(-TTCT);另外检出一例来源于苗族的罕见CD53(-T)突变.α-复合β-地贫携带者19例,阳性率是4.41%(19/431).对不同的α-地贫突变类型进行血液学特征分析比较,αα/^(--SEA)突变类型的MCV、MCH值较其他突变类型明显偏低.对不同β-地贫突变类型进行血液学特征分析比较,CD41/42(-TTCT)突变类型的Hb值较其他突变类型明显偏低.文山州地贫阳性率为40.84%,提示该地区可能为地贫高发地区;最为常见的突变类型是αα/^(--SEA)和CD17(A>T).本研究对文山地区地贫防控、临床遗传咨询工作提供了一定的理论支持.

To understand the positive screening rate,mutation types,and hematological characteristics of thalassemia in Guangnan and Funing counties of Wenshan Zhuang-Miao Autonomous Prefecture,Yunnan Province,and to provide a reference basis for thalassemia prevention and control work.A total of 431 samples were collected from children(0-7 years old) and reproductive-age individuals(18-45 years old) in Guangnan and Funing counties of Wenshan Prefecture.Personal information was recorded,and blood routine tests,hemoglobin electrophoresis analysis,and globin gene second-generation sequencing were performed on the samples.The results showed that the samples included Zhuang,Miao,Han,Yao,Yi,and Bai ethnic groups,with the Zhuang ethnic group having the largest sample size.Among the 431 samples,a total of 176 thalassemia carriers were detected,with a positive rate of 40.84%(176/431).There were 85 α-thalassemia carriers,with a positive rate of 19.72%(85/431).The most common gene mutation type was αα/~(--SEA),followed by αα/-α~(3.7).There were 72 β-thalassemia carriers,with a positive rate of 16.71%(72/431).The most common gene mutation type was CD17(AT),followed by CD41/42(-TTCT).In addition,a rare CD53(-T) mutation from the Miao ethnic group was detected.There were 19 αβ-thalassemia compound carriers,with a positive rate of 4.41%(19/431).Hematological characteristics analysis comparing different α-thalassemia mutation types showed that the MCV and MCH values of the αα/~(--SEA) mutation type were significantly lower than those of other mutation types.Hematological characteristics analysis comparing different β-thalassemia mutation types showed that the Hb value of the CD41/42(-TTCT) mutation type was significantly lower than that of other mutation types.The positive rate of thalassemia in Wenshan Prefecture was 40.84%,indicating that the region may be a high-prevalence area for thalassemia,the most common mutation types were αα/~(--SEA) and CD17(AT).This study provides theoretical support for thalassemia prevention and control as well as clinical genetic counseling in the Wenshan region.