期刊文献+

广西北部湾地区人群非缺失型α地贫等位基因携带者血液学数据分析 被引量:1

The hematology analysis on the people carrying non-deletion α thalassemia alleles in Guangxi Beibu Gulf area
原文传递
导出
摘要 目的了解广西北部湾地区人群非缺失型α地贫等位基因携带者血液学数据变化情况。方法采用Gap-PCR、PCR-RDB法对799例受测者进行分析,并对受测者MCV、MCH和Hb值进行测定。结果αQSα等位基因对携带者血液学数据影响最重,αCSα等位基因对携带者血液学数据影响与αQSα类似,αWestmeadα的影响最轻。非缺失型α地贫等位基因与--SEA或--THAI等位基因杂合,均可引发Hb H病。结论αTα等位基因携带者的MCV值或者MCH值整体比野生型个体低,因此在日常筛查活动中,我们应密切留意受检者的MCV值和MCH值,以提示疑似携带者做进一步基因检测。 Objective:To study the situation of the hematology condition of the people carrying non-deletion α thalassemia alleles in Guangxi Beibu Gulf area. Methods:The Gap-PCR and PCR-RDB were used for analysis. A total of 799 individuals were performed analysis and their hematology data of the MCV,the MCH and the Hb were recorded. Results:The hematology data changed most when the individual carrying α^QS allele,the similar condition appear in the individual carrying α^CS allele,the change is not significantly when the individual carrying α^Wstmeadα allele. When the α^T allele combined with the--^SEA or--^THAIallele,it will lead Hb H dicease. Conclusion:When the individual carrying α^T allele,his/her MCV and MCH value is lower than the wild-type individual. During the daily thalassemia screening work,we must pay attention on the MCV and the MCH value to find the suspected carriers.
作者 李惠勤 龙驹
出处 《中国优生与遗传杂志》 2016年第3期21-22,43,共3页 Chinese Journal of Birth Health & Heredity
基金 钦州市科学研究与技术开发计划项目支持(合同号20141600901)
关键词 广西北部湾地区 地中海贫血 非缺失型α地贫 α地贫 Guangxi Beibu Gulf area Thalassemia Non-deletion α thalassemia α Thalassemia
  • 相关文献

参考文献9

  • 1Long J, Ye X, Lao K, et al. Detection of three common ct-thalassemia in non-deletion types and six common thalassemia in deletion types by QF-PCR[J]. Clinical Biochemistry, 2013,46 (18) :1860-1864.
  • 2Galanello R, Origa R. Beta-thalassemia[J]. Orphanet J Rare Dis, 2010, 5:11.
  • 3Harteveld CL, Higgs DR. Alpha-thalassaemia[J]. Orphanet J Rare Dis, 2010, 5:13.
  • 4Chao YI-I, Wu KH, Wu HP, et al. Clinical features and molecular analysis of Hb H disease in Taiwan[J]. Biomed Res Int, 2014, 271070.
  • 5Chui DH, Fucharoen S, Chan V. Hemoglobin H disease :not necessarily a benign disorder[J]. Blood, 2003, 101 (3) :791-800.
  • 6Chui DH. Alpha-thalassemia :HbH disease and Hb Barts bydrops fetalis[J]. Ann N Y Acad Sci, 2005, 1054:25-32.
  • 7He S, Zheng C, Meng D, et al. HbH Hydrops Fetalis Syndrome Caused by Association of the--sEA Deletion and Hb Constant Spring (HBA2 :c.427T > C) Mutation in a Chinese Family[J]. Hemoglobin, 2015, 39 (3) :216-9.
  • 8庞婉容,龙驹,叶学和,唐维骏,孙雷,劳可干,颜善活.广西北部湾地区人群地中海贫血基因突变分析[J].中国优生与遗传杂志,2016,24(1):39-42. 被引量:16
  • 9龙驹,颜善活,劳可干,庞婉容,叶学和,孙雷.产前诊断中地中海贫血--^(THAI)型和HPFH-SEA型的基因检测[J].中国优生与遗传杂志,2014,22(2):20-22. 被引量:5

二级参考文献7

  • 1Harteveld CL, Higgs DR. Alpha-thalassaemia[J].Orphanet J Rare Dis, 2010,28 ;5:13.
  • 2Pan HF, GF Long, Q Li, et al.Current status of thalassemia in minority populations in Guangxi, China[J].Clin Genet, 2007, 71 (5): 419-426.
  • 3Xu XM, YQ Zhou, GX Luo, et al. The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province :implications for the future health burden and population screening[J].J ClinPathol, 2004, 57 (5) :5 17-522.
  • 4Long J, Yan S, Lao K, et al. The diagnosis and molecular analysis of a novel 21.9kb deletion (Qinzhou type deletion)causing et+thalassemia[J].Blood Cells Mol Dis, 2014,52 (4) :225-9.
  • 5Long J, Ye X, Lao K, et al. Detection of three common c-thalassemia in non-deletion types and six common thalassemia in deletion types by QF-PCR.[J].Clinical Biochemistry, 2013, 46 : 1860-1864.
  • 6龙驹,颜善活,劳可干,庞婉容,叶学和,孙雷.产前诊断中地中海贫血--^(THAI)型和HPFH-SEA型的基因检测[J].中国优生与遗传杂志,2014,22(2):20-22. 被引量:5
  • 7蔡稔,李莉艳,梁昕,刘忠英,苏柳,李文军,朱潜贵,莫秋华,潘莉珍,欧阳鸿,黄丽华,徐湘民.柳州市城镇人群α和β地中海贫血的发生率调查和基因型鉴定[J].中华流行病学杂志,2002,23(4):281-285. 被引量:149

共引文献19

同被引文献11

引证文献1

二级引证文献2

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部