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Genetic variants in red blood cell adhesion-related genes influence the severity of sickle cell anemia in a malaria-endemic region

2026-05Artigo científico Acesso aberto
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datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorMatos, Irina
dc.contributor.authorSantos, Brígida
dc.contributor.authorGonçalves, Elisângela
dc.contributor.authorLopes, Pedro
dc.contributor.authorBrito, Miguel
dc.contributor.authorArez, Ana Paula
dc.contributor.authorFaustino, Paula
dc.date.accessioned2026-06-03T10:11:08Z
dc.date.available2026-06-03T10:11:08Z
dc.date.issued2026-05
dc.descriptionOpen access funding provided by FCT|FCCN (b-on). This work was partially supported by the Fundação Para a Ciência e a Tecnologia (FCT, Portugal)/Aga Khan Development Network, Grant number 330842553, GHTM-UID/04413/2025, and LA-REAL—LA/P/0117/2020.
dc.description.abstractBackground: Sickle cell anemia (SCA) is a genetic disease marked by abnormal hemoglobin S and sickle-shaped red blood cells. It is highly prevalent in sub-Saharan Africa, especially in Angola, where SCA and malaria are major causes of childhood mortality. This study aimed to explore whether genetic variants in genes associated with red blood cell adhesion to the vascular endothelium influence the manifestations of SCA in Angolan pediatric patients in the context of malaria. Methods and results: The study enrolled 65 pediatric SCA patients living in Luanda or Caxito. Their clinical, hematological, and biochemical profiles were monitored through longitudinal pediatric follow-up appointments. Fifteen polymorphic sites were genotyped in CD36 and ICAM-1 genes using PCR, Sanger sequencing, and fragment analysis by capillary electrophoresis. Malaria infection was evaluated by detecting Plasmodium species DNA through PCR analysis of blood spot samples. The CD36 variant rs3211891_C is revealed for the first time as a potential modulator of anemia severity in SCA. Additionally, the CD36 variant rs3211938_G, along with the ICAM-1 variants rs5491_T and rs5496_A, significantly impacted the severity of the hematological phenotype in SCA. Furthermore, SCA patients carrying the ICAM-1 rs5494_T variant showed a 5.63-fold increased risk of having malaria infection compared to those with the wild-type genotype. Conclusions: This study enhances our understanding of genetic modifiers of red blood cell adhesion to the vascular endothelium and their influence on the severity of pediatric SCA in the context of frequent concomitant malaria infection in Angola.eng
dc.description.sponsorshipOpen access funding provided by FCT|FCCN (b-on). This work was partially supported by the Fundação Para a Ciência e a Tecnologia (FCT, Portugal)/Aga Khan Development Network, Grant number 330842553, GHTM-UID/04413/2025, and LA-REAL—LA/P/0117/2020.
dc.identifier.citationMatos I, Santos B, Gonçalves E, Lopes P, Brito M, Arez AP, et al. Genetic variants in red blood cell adhesion-related genes influence the severity of sickle cell anemia in a malaria-endemic region. Mol Biol Rep. 2026;53:855.
dc.identifier.doi10.1007/s11033-026-12029-w
dc.identifier.issn0301-4851
dc.identifier.issn1573-4978
dc.identifier.urihttp://hdl.handle.net/10400.21/22908
dc.language.isoeng
dc.peerreviewedyes
dc.publisherSpringer Science and Business Media LLC
dc.relationAga Khan Development Network, Grant number 330842553
dc.relationGHTM-UID/04413/2025
dc.relationLA-REAL—LA/P/0117/2020
dc.relation.hasversionhttps://link.springer.com/article/10.1007/s11033-026-12029-w
dc.relation.ispartofMolecular Biology Reports
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectSickle cell disease
dc.subjectRed blood cells
dc.subjectGenetics
dc.subjectAngola
dc.subjectGHTM-UID/04413/2025
dc.subjectLA-REAL—LA/P/0117/2020
dc.subjectMalaria
dc.subjectEpidemiology
dc.subjectIntercellular Adhesion Molecule-1
dc.subjectPolymorphism, single nucleotide
dc.titleGenetic variants in red blood cell adhesion-related genes influence the severity of sickle cell anemia in a malaria-endemic regioneng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue1
oaire.citation.startPage855
oaire.citation.titleMolecular Biology Reports
oaire.citation.volume53
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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