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Mapping current and emerging laboratory techniques for haemoglobinopathy carrier detection and prevention: a narrative review from the HELIOS Action

2026-04Artigo científico Acesso aberto
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datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorYasin, Norafiza Mohd
dc.contributor.authorChatzimatthaiou, Sotiroula
dc.contributor.authorPerolla, Adela
dc.contributor.authorBlanco Alvarez, Adoracion
dc.contributor.authorBrito, Miguel
dc.contributor.authorEl-Kamah, Ghada
dc.contributor.authorXhetani, Merita
dc.contributor.authorKountouris, Petros
dc.contributor.authorStephanou, Coralea
dc.contributor.authorTraeger-Synodinos, Jan
dc.date.accessioned2026-05-15T09:21:45Z
dc.date.available2026-05-15T09:21:45Z
dc.date.issued2026-04
dc.descriptionThis publication is based upon work from COST Action HELIOS CA22119, supported by COST (European Cooperation in Science and Technology). The author gratefully acknowledges the invaluable cooperation, sustained commitment, and collaborative efforts of all co-authors who are also members of Working Group 1 of HELIOS (CA22119), whose contributions were essential to the successful completion of this work.
dc.description.abstractHaemoglobinopathies remain a major public health challenge, predominantly in endemic regions. Increasing migration has extended their prevalence in previously non-endemic areas, complicating early detection and prevention. As part of the HELIOS CA22119 COST Action Working Group 1, this narrative review critically examines established and emerging laboratory techniques for haemoglobinopathy carrier detection. It also explores diagnostic limitations, regional disparities, and opportunities for global harmonisation to support early detection, prevention, and equitable care. A literature search of MEDLINE, PubMed, Scopus, and EMBASE (2014–2024) identified studies on the screening, diagnosis, and prevention of haemoglobinopathies. Findings were synthesised across three domains: (1) preventive strategies, (2) carrier screening methods, and (3) prenatal diagnostic approaches. Advances in molecular technologies have improved diagnostic sensitivity and specificity. However, conventional haematological approaches, particularly complete blood count and haemoglobin typing, remain essential and cost-effective first-line tools. Key challenges include unequal access to advanced diagnostics and the lack of standardised protocols across regions. Strengthening prevention requires coordinated global efforts to promote accessible, accurate, and standardised diagnostic approaches tailored to regional genomic, economic, and healthcare contexts. Early and equitable carrier detection, combined with effective prenatal diagnosis, is critical to reducing the global burden and improving health outcomes in both endemic and emerging regions.eng
dc.identifier.citationYasin NM, Chatzimatthaiou S, Perolla A, Blanco Alvarez A, Brito M, El-Kamah G, et al. Mapping current and emerging laboratory techniques for haemoglobinopathy carrier detection and prevention: a narrative review from the HELIOS Action. Int J Mol Sci. 2026;27(9):3916.
dc.identifier.doi10.3390/ijms27093916
dc.identifier.issn1422-0067
dc.identifier.urihttp://hdl.handle.net/10400.21/22881
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI AG
dc.relation.hasversionhttps://www.mdpi.com/1422-0067/27/9/3916
dc.relation.ispartofInternational Journal of Molecular Sciences
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectThalassaemia
dc.subjectHemoglobinopathies
dc.subjectCarrier screening
dc.subjectLaboratory diagnostics
dc.subjectGlobal epidemiology
dc.subjectPrevention strategies
dc.titleMapping current and emerging laboratory techniques for haemoglobinopathy carrier detection and prevention: a narrative review from the HELIOS Actionpor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue9
oaire.citation.startPage3916
oaire.citation.titleInternational Journal of Molecular Sciences
oaire.citation.volume27
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameBrito
person.givenNameMiguel
person.identifier.ciencia-id231F-F341-7E93
person.identifier.orcid0000-0001-6394-658X
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id35224551000
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
relation.isAuthorOfPublication.latestForDiscovery4252d8e0-800c-4d67-8b13-0b711d860669

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