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PubMed · 42319459

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

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
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Abstract

While high-performance liquid chromatography (HPLC) is well-established for &#x3b2;-thalassaemia and haemoglobinopathies, phenotypic screening for &#x3b1;0-thalassaemia has been limited. To address this limitation, we aimed to translate the discovery of the &#x3b1;-thalassemia early eluting peak (&#x3b1;EEP) 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 &#x3b1;EEP by liquid chromatography-tandem mass spectrometry (LC-MS/MS). With a cohort of 820 genotyped patients, the &#x3b1;EEP showed superior diagnostic performance in detecting --SEA (sensitivity 99.6%, specificity 100%) compared with HbHi (sensitivity 95.8%, P&#x2009;=&#x2009;0.006; specificity 97.3%, P&#x2009;<&#x2009;0.001) and ICT (sensitivity 95.8%, P&#x2009;=&#x2009;0.006; specificity 75.4%, P&#x2009;<&#x2009;0.001). Both HbHi and ICT showed reduced sensitivity in &#x3b2;-thalassaemia carriers versus non-carriers. ICT showed reduced specificity when Hb F&#x2009;&#x2265;&#x2009;1% compared with <&#x2009;1%. The &#x3b1;EEP remained robust across all subgroups. LC-MS/MS revealed a strong association between the &#x3b1;EEP and embryonic &#x3b6;-globin chains (P&#x2009;<&#x2009;0.001). The &#x3b1;EEP offered cost reductions of 98.6% over HbHi and 97.3% over ICT. Collectively, the &#x3b1;EEP is a highly reliable and cost-effective marker for detecting --SEA carriers, enabling a novel "all-in-one" HPLC screening strategy for --SEA, &#x3b2;-thalassaemia and haemoglobinopathies. Trial registration number: not applicable.

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Humansalpha-ThalassemiaChromatography, AffinityHemoglobin HTandem Mass SpectrometryChromatography, High Pressure LiquidSensitivity and SpecificityFemaleReagent StripsHeterozygoteGenetic Carrier ScreeningAlpha-thalassaemiaAlpha-thalassaemia early eluting peakHaemoglobin H inclusion testImmunochromatographic strip testJournal ArticleMulticenter StudyComparative Study

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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. 2026-06-19. Alpha-thalassaemia early eluting peak for alpha-thalassaemia --SEA carrier screening: a multicentre diagnostic comparison with immunochromatographic strip test and haemoglobin H inclusion test.. https://doi.org/10.1007/s00277-026-07102-0

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