• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Hemoglobin: International Journal for Hemoglobin Research >Utility and importance of accurate Hb A2 measurements for defining a strategy for β-Thalassemia screening: Experience in the Balearic Islands, Spain
【24h】

Utility and importance of accurate Hb A2 measurements for defining a strategy for β-Thalassemia screening: Experience in the Balearic Islands, Spain

机译：准确的Hb A2测量对定义β-地中海贫血筛查策略的实用性和重要性：西班牙巴利阿里群岛的经验

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

The high heterogeneity in regional profiles of β-thalassemia (β-thal) mutations highlights the need for population-specific carrier detection strategies. Our aim was to analyze the relationship between hematological values and β0 and β+ mutations in 154 Balearic β-thal heterozygotes, in order to establish the most optimized mutation carrier detection strategy to be used to manage the disease in our population. The Hb A2 level was the best parameter for discriminating between both types of carriers. Taking into account the cut-off point value of 4.85% (Hb A2), obtained by a receiver-operating characteristic (ROC) curve analysis, we proposed an algorithm that would use a real-time polymerase chain reaction (RT-PCR) hybridization probe assay technique to detect one of the two most common mutations in the Balearic population, namely codon 39 (CT) and IVS-I-110 (GA), depending on the Hb A2 value of the patient.
机译：β地中海贫血（β-thal）突变的区域分布中的高度异质性凸显了对特定人群的携带者检测策略的需求。我们的目的是分析154个巴利阿里人β-thal杂合子的血液学值与β0和β+突变之间的关系，以便建立最优化的突变载体检测策略，以用于管理该人群中的疾病。 Hb A2水平是区分两种类型携带者的最佳参数。考虑到通过接收者操作特征（ROC）曲线分析获得的4.85％（Hb A2）临界点值，我们提出了一种使用实时聚合酶链反应（RT-PCR）杂交的算法探针检测技术可根据患者的Hb A2值来检测巴利阿里族群中两个最常见的突变之一，即39号密码子（C> T）和IVS-I-110（G> A）。

著录项

相似文献

  • 外文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号