Scholarlink

<p>While high-performance liquid chromatography (HPLC) is well-established for β-thalassaemia and haemoglobinopathies, phenotypic screening for α<sup>0</sup>-thalassaemia has been limited. To address this limitation, we aimed to translate the discovery of the α-thalassemia early eluting peak (αEEP) in HPLC into clinical practice by comparing its diagnostic performance with other existing methods (haemoglobin H inclusion test [HbHi] and immunochromatographic strip test [ICT]) in a multicentre setting, and elucidating the nature of the αEEP by liquid chromatography-tandem mass spectrometry (LC-MS/MS). With a cohort of 820 genotyped patients, the αEEP showed superior diagnostic performance in detecting --<sup>SEA</sup> (sensitivity 99.6%, specificity 100%) compared with HbHi (sensitivity 95.8%, <i>P</i> = 0.006; specificity 97.3%, <i>P</i> &lt; 0.001) and ICT (sensitivity 95.8%, <i>P</i> = 0.006; specificity 75.4%, <i>P</i> &lt; 0.001). Both HbHi and ICT showed reduced sensitivity in β-thalassaemia carriers versus non-carriers. ICT showed reduced specificity when Hb F ≥ 1% compared with &lt; 1%. The αEEP remained robust across all subgroups. LC-MS/MS revealed a strong association between the αEEP and embryonic ζ-globin chains (<i>P</i> &lt; 0.001). The αEEP offered cost reductions of 98.6% over HbHi and 97.3% over ICT. Collectively, the αEEP is a highly reliable and cost-effective marker for detecting --<sup>SEA</sup> carriers, enabling a novel “all-in-one” HPLC screening strategy for --<sup>SEA</sup>, β-thalassaemia and haemoglobinopathies. Trial registration number: not applicable.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Alpha-thalassaemia early eluting peak for alpha-thalassaemia --SEA carrier screening: a multicentre diagnostic comparison with immunochromatographic strip test and haemoglobin H inclusion test

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年6月19日

查看全文
  • Wing Kit Lam,
  • Carmen Michelle Yuen,
  • Lawrence Lap Chi Tsui,
  • Ting Hon Stanford Li,
  • Vivian Ka Pik Yeung,
  • Albert Chun Fung Sin,
  • Tsz Fung Wong,
  • Winnie Yim Fong Law,
  • Christina Pui Ying Fan,
  • Lok Nga Ko,
  • Vivian Hoi Kei Woo,
  • Kit Yu Chan,
  • Tsz Ning Chan,
  • Tze Wing Fan,
  • Lok Han Too,
  • Chi Keung Cheng,
  • Man Ling Wong,
  • Aves Hui Hsuan Wu,
  • Benny Man Wai Lit,
  • Yu Fong Wong,
  • Man Wai Chan,
  • Chun Him Ip,
  • Julia Cheuk Ting Leung,
  • Po Chun Wong,
  • Kei Ching Yuen,
  • Wang Ho Yuen,
  • Hoi Ching Wong,
  • Jamilla Wai Yan Li,
  • Anskar Yu Hung Leung,
  • Joyce Sin Cheung,
  • Natalie Pui Ha Chan,
  • Margaret Heung Ling Ng,
  • Joyce Hoi Yi Kwong,
  • Eudora Yu De Chow,
  • Wai Shan Wong,
  • Kate Fung Shan Leung,
  • Sze Fai Yip

摘要

While high-performance liquid chromatography (HPLC) is well-established for β-thalassaemia and haemoglobinopathies, phenotypic screening for α0-thalassaemia has been limited. To address this limitation, we aimed to translate the discovery of the α-thalassemia early eluting peak (αEEP) in HPLC into clinical practice by comparing its diagnostic performance with other existing methods (haemoglobin H inclusion test [HbHi] and immunochromatographic strip test [ICT]) in a multicentre setting, and elucidating the nature of the αEEP by liquid chromatography-tandem mass spectrometry (LC-MS/MS). With a cohort of 820 genotyped patients, the αEEP showed superior diagnostic performance in detecting --SEA (sensitivity 99.6%, specificity 100%) compared with HbHi (sensitivity 95.8%, P = 0.006; specificity 97.3%, P < 0.001) and ICT (sensitivity 95.8%, P = 0.006; specificity 75.4%, P < 0.001). Both HbHi and ICT showed reduced sensitivity in β-thalassaemia carriers versus non-carriers. ICT showed reduced specificity when Hb F ≥ 1% compared with < 1%. The αEEP remained robust across all subgroups. LC-MS/MS revealed a strong association between the αEEP and embryonic ζ-globin chains (P < 0.001). The αEEP offered cost reductions of 98.6% over HbHi and 97.3% over ICT. Collectively, the αEEP is a highly reliable and cost-effective marker for detecting --SEA carriers, enabling a novel “all-in-one” HPLC screening strategy for --SEA, β-thalassaemia and haemoglobinopathies. Trial registration number: not applicable.