PubMed Health⌕ Search
Home/Archive/PubMed

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
View original source ↗Export metadata ↓

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.

Explore related subjects

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

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

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

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2027

Global Genomic Surveillance.

Global genomic surveillance has emerged as a foundational pillar of public health in the twenty-first century, enabling real-time tracking of pathogen evolution and informing outbreak response. This chapter examines the strategic architecture of global genomic surveillance, focusing on its application to arboviruses such as chikungunya virus (CHIKV). It explores the integration of genomic data with epidemiological, clinical, and environmental information within a One Health framework, while addressing critical challenges in governance, equity, and interoperability. The discussion covers the entire genomic surveillance workflow, from sample collection and sequencing to bioinformatic analysis and phylogenetic inference, and highlights the transformative role of artificial intelligence (AI) in predictive surveillance. By analyzing global initiatives, operational barriers, and emerging technologies, this chapter underscores the necessity of sustainable, equitable, and interoperable genomic systems to proactively address current and future infectious disease threats.

Humans↗
PubMed2027

Systematic Dissection of Key Driver Perturbation Signatures in Single Cells via ECCITE-seq.

CRISPR screens, such as expanded CRISPR-compatible cellular indexing of transcriptomes and epitopes by sequencing (ECCITE-seq), enable the simultaneous measurement of transcriptomes, gRNA identity, and cell-surface protein expression at single-cell resolution to systematically interrogate gene function. This platform provides a powerful and scalable experimental approach for validating disease-associated regulators identified by large-scale association studies and other computational methods, including network-based analyses of multi-omics data. Here, as an example application, we describe an ECCITE-seq framework to characterize the transcriptomic consequences of perturbing multiple neuronal key driver genes associated with Alzheimer's disease (AD) in human-induced pluripotent stem cell (hiPSC)-derived neurons. More broadly, by integrating customized pooled gRNA libraries with different CRISPR effectors across multiple cell types, this approach allows for the assessment of the regulatory impact of candidate genes implicated in development and disease processes.

Humans↗
PubMed2027

Identification of Genome-Wide Chromatin Structural Aberration in Cancer by Hi-C Analysis.

Aberrant three-dimensional genome organization is a hallmark of cancer, often driving oncogene activation through mechanisms such as enhancer hijacking. High-throughput chromosome conformation capture (Hi-C) maps these interactions on a genome-wide scale. Unlike earlier dilution-based methods, in situ Hi-C performs proximity ligation within intact nuclei, minimizing random ligation noise and enabling fine-scale structure detection. This chapter describes an optimized in situ Hi-C protocol tailored for cancer cell lines using MboI digestion and biotin-mediated pull-down to generate high-complexity libraries. We further outline a computational workflow that extends beyond standard topological mapping of compartments and topologically associating domains to identify cancer-specific aberrations. Specifically, we focus on detecting chromosomal rearrangements (structural variants) and characterizing the distinct circular topology of extrachromosomal DNA. This integrated experimental and analytical framework provides the necessary tools to dissect the spatial dysregulation underlying tumor evolution.

Humans↗