Suppr超能文献

泰国北部的血红蛋白变异体:患病率、异质性及分子特征

Hemoglobin Variants in Northern Thailand: Prevalence, Heterogeneity and Molecular Characteristics.

作者信息

Panyasai Sitthichai, Fucharoen Goonnapa, Fucharoen Supan

机构信息

1 Biomedical Science Program, Graduate School, Khon Kaen University , Khon Kaen, Thailand .

2 Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University , Khon Kaen, Thailand .

出版信息

Genet Test Mol Biomarkers. 2016 Jan;20(1):37-43. doi: 10.1089/gtmb.2015.0182. Epub 2015 Nov 6.

Abstract

BACKGROUND

There are limited data on hemoglobin (Hb) variants among peoples of northern Thailand. Hence, we determined the prevalence of Hb variants among a large cohort from this region.

METHODS

A study was done on 23,914 subjects recruited from eight provinces during June 2012-January 2014. Hb was analyzed by high performance liquid chromatography (HPLC) and capillary electrophoresis, and corresponding mutations were identified by polymerase chain reaction.

RESULTS

Among 23,914 subjects examined, 211 (0.88%) were found to carry 14 different Hb variants. Five α-globin chain variants were identified: Hb Q-Thailand (n = 40; 19.0%), Hb Hekinan (n = 8, 3.8%), Hb Siam (n = 2, 0.9%), Hb Beijing (n = 1, 0.5%), and Hb Kawachi (n = 1, 0.5%), not previously described in the Thai population. Seven β-globin variants, including Hb Hope, Hb Tak, Hb S, Hb J-Bangkok, Hb G-Makassar, Hb C, and Hb Korle-Bu, were found in 115 (54.5%), 30 (14.2%), 3 (1.4%), 3 (1.4%), 1 (0.5%), 1 (0.5%), and 1 (0.5%) subjects, respectively. The remaining five subjects (2.4%) were carriers of two different δ-globin chain variants. A different spectrum and frequencies of Hb variants were noted compared to other geographical areas. Haplotype analysis demonstrated multiple origins for Hbs Hope and Tak and confirmed a non-African origin of Hb C. Several genetic interactions between these variants with other hemoglobinopathies were encountered. Associated hematological phenotypes and novel Hb derivatives formed were presented.

CONCLUSIONS

The prevalence and molecular heterogeneities of the Hb variants found in this large cohort of the northern Thai people's should prove useful in developing a screening program, and for the performance of additional population genetics studies of hemoglobinopathy in the region.

摘要

背景

关于泰国北部人群中血红蛋白(Hb)变异体的数据有限。因此,我们确定了该地区一个大型队列中Hb变异体的患病率。

方法

对2012年6月至2014年1月期间从八个省份招募的23914名受试者进行了一项研究。通过高效液相色谱(HPLC)和毛细管电泳分析Hb,并通过聚合酶链反应鉴定相应的突变。

结果

在23914名接受检查的受试者中,发现211名(0.88%)携带14种不同的Hb变异体。鉴定出5种α-珠蛋白链变异体:Hb Q-泰国型(n = 40;19.0%)、Hb 赫基南型(n = 8,3.8%)、Hb 暹罗型(n = 2,0.9%)、Hb 北京型(n = 1,0.5%)和Hb 川崎型(n = 1,0.5%),这些变异体此前在泰国人群中未被描述。在115名(54.5%)、30名(14.2%)、3名(1.4%)、3名(1.4%)、1名(0.5%)、1名(0.5%)和1名(0.5%)受试者中分别发现了7种β-珠蛋白变异体,包括Hb 霍普型、Hb 塔克型、Hb S型、Hb J-曼谷型、Hb G-望加锡型、Hb C型和Hb 科勒-布型。其余5名受试者(2.4%)是两种不同δ-珠蛋白链变异体的携带者。与其他地理区域相比,Hb变异体的谱和频率有所不同。单倍型分析表明Hb霍普型和塔克型有多个起源,并证实Hb C型起源于非洲以外地区。这些变异体与其他血红蛋白病之间存在多种基因相互作用。呈现了相关的血液学表型和形成的新型Hb衍生物。

结论

在泰国北部人群的这个大型队列中发现的Hb变异体的患病率和分子异质性,应有助于制定筛查计划,并用于该地区血红蛋白病的更多群体遗传学研究。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验