Alpha-thalassaemia early eluting peak for alpha-thalassaemia --SEA carrier screening: a multicentre diagnostic comparison with immunochromatographic strip test and haemoglobin H inclusion test.
СтатьяМногоцентровое исследованиеСравнительное исследованиеНазвание и аннотация: Перевод в очереди
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Lam Wing Kit, Yuen Carmen Michelle, Tsui Lawrence Lap Chi, Li Ting Hon Stanford, Yeung Vivian Ka Pik, Sin Albert Chun Fung, Wong Tsz Fung, Law Winnie Yim Fong, Fan Christina Pui Ying, Ko Lok Nga, Woo Vivian Hoi Kei, Chan Kit Yu, Chan Tsz Ning, Fan Tze Wing, Too Lok Han, Cheng Chi Keung, Wong Man Ling, Wu Aves Hui Hsuan, Lit Benny Man Wai, Wong Yu Fong, Chan Man Wai, Ip Chun Him, Leung Julia Cheuk Ting, Wong Po Chun, Yuen Kei Ching, Yuen Wang Ho, Wong Hoi Ching, Li Jamilla Wai Yan, Leung Anskar Yu Hung, Cheung Joyce Sin, Chan Natalie Pui Ha, Ng Margaret Heung Ling, Kwong Joyce Hoi Yi, Chow Eudora Yu De, Wong Wai Shan, Leung Kate Fung Shan, Yip Sze Fai
Аннотация
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.