吉林大学学报(医学版) ›› 2017, Vol. 43 ›› Issue (03): 646-650.doi: 10.13481/j.1671-587x.20170336

• 调查研究 • 上一篇    下一篇

贵州省黔东南州少数民族地区苗族和侗族儿童地中海贫血的筛查及其特点

罗红芳, 龙月婷, 梁建华, 姜志花, 李书梅   

  1. 贵州医科大学第二附属医院, 贵州 凯里 556000
  • 收稿日期:2016-07-10 出版日期:2017-05-28 发布日期:2017-06-01
  • 通讯作者: 罗红芳,副主任医师(Tel:0855-3833111,E-mail:26901840@qq.com) E-mail:26901840@qq.com
  • 作者简介:罗红芳(1973-),女,浙江省台州市人,副主任医师,主要从事新生儿及小儿呼吸和血液疾病诊治方面的研究。
  • 基金资助:
    贵州省科技厅科教青年英才培养工程资助课题[黔省专合字(2012-185)号]

Screening and characteristics of children of Miao and Dong nationalities with mediterranean anemia in ethnic minority areas of Qiandongnan State of Guizhou Province

LUO Hongfang, LONG Yueting, LIANG Jianhua, JIANG Zhihua, LI Shumei   

  1. Department of Pediatrics, Second Affiliated Hospital, Guizhou Medical University, Kaili 55600, China
  • Received:2016-07-10 Online:2017-05-28 Published:2017-06-01

摘要: 目的:探讨贵州省黔东南州少数民族地区苗族和侗族儿童地中海贫血筛查结果和临床特点,阐明地中海贫血的种族差异性。方法:采用多阶段分层随机抽样法筛查贵州省黔东南州苗族和侗族儿童(1623人)的地中海贫血情况。采用血红蛋白A2(HbA2)和血红蛋白F(HbF)定量分析对入选儿童进行地中海贫血初次筛选,采用酚-氯仿抽提法提取地中海贫血患儿的DNA,采用ASO/RDB-PCR反向点杂交法分析地中海贫血儿童的基因特点。结果:筛查的苗族和侗族儿童1623人中苗族儿童(938人)检出α型地中海贫血阳性18人,β型地中海贫血阳性36人,阳性检出率为1.92%;侗族儿童(685人)中检出α型地中海贫血阳性13例,β型地中海贫血阳性24例,阳性检出率为3.50%;苗族儿童 αβ 复合型地中海贫血检出率为1.49%,侗族儿童αβ 复合型地中海贫血检出率为4.61%;2个民族儿童中各型地中海贫血检出率比较差异均无统计学意义(P>0.05)。——SEA/-αα和-α3.7为 α型地中海贫血的主要基因突变类型,CD17/N和CD14-15/N是β型地中海贫血的主要基因突变类型,——SEA/β41-42和——SEA/β17是 αβ 复合型地中海贫血的主要基因突变类型,2个民族儿童各型地中海贫血的主要突变类型基因阳性率比较差异无统计学意义(P>0.05)。结论:贵州省黔东南州苗族和侗族儿童地中海贫血筛查阳性率差异不大,CD17/N、——SEA/-αα及 ——SEA/β41-42分别为α、β及 αβ 复合型地中海贫血的主要基因突变类型。

关键词: 黔东南州, 侗族, 地中海贫血, 苗族, 儿童, 筛查

Abstract: Objective: To discuss the screening results and clinical characteristics of children of Miao and Dong nationalities with mediterranean anemia in ethnic minority areas of Qiandongnan State of Guizhou Province, and to clarify the differences of the mediterranean anemia among different minorities. Methods: A total of 1 623 children of Miao and Dong nationalities with mediterranean anemia in minority areas of Qiandongnan State were selected by multistage stratified random sampling method; quantitative analysis of HbA2 and HbF was used to screen the selected children with mediterranean anemia initially; phenol chloroform extraction method was applied to extract the DNA from the children with mediterranean anemia; ASO/RDB-PCR reverse dot blot hybridization method was used to analyze the gene characteristics of the children with mediterranean anemia. Results: A total of 1 623 children of Miao and Dong nationalities were selected as the subjects. Among 938 children with Miao nationality, there were 18 children with positive α-mediterranean anemia and 36 children with positive β-mediterranean anemia, and the positive detection rate was 1.92%. Among 685 children with Tong nationality, there were 13 children with positive α-mediterranean anemia and 24 children with positive β-mediterranean anemia, and the positive detection rate was 3.50%. The detection rates of composite of α-and β-mediterranean anemia in the children of Miao nationality and Tong nationality were 1.49% and 4.61%.There was no significant difference in the detection rates of different kinds of mealiterranean anemia between two nationalities (P<0.05). The major gene mutations in α-mediterranean anemia were——SEA/-αα and -α3.7, and the major gene mutations in β-mediterranean anemia were CD17/N and CD14-15/N, while the major gene types of the composite of α-and β-mediterranean anemia were——SEA/β41-42 and——SEA/β17. There was no difference in the positive rates of major gene types of different kinds of mediter ranean anemia between two nationalities(P<0.05). Conclusion: There is no difference in the positive rate of children of Miao and Dong nationalities with mediterranean anemia in minority areas of Qiandongnan State. CD17/N,——SEA/-αα and——SEA/β41-42 are the major gene types of α-, β-, and αβ-mediterranean anemia, respectively.

Key words: Qiandongnan State, Dong minority, mediterranean anemia, Miao minority, children, screening

中图分类号: 

  • R556