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Genetic modifiers of sickle cell anemia severity in an Angolan cohort

2023-11Conference poster Open access
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datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorGinete, Catarina
dc.contributor.authorDelgadinho, Mariana
dc.contributor.authorSantos, Brígida
dc.contributor.authorMiranda, Armandina
dc.contributor.authorSilva, Carina
dc.contributor.authorGuerreiro, Paulo
dc.contributor.authorChimusa, Emile R.
dc.contributor.authorBrito, Miguel
dc.date.accessioned2025-04-10T09:42:39Z
dc.date.available2025-04-10T09:42:39Z
dc.date.issued2023-11
dc.descriptionThis research was funded by FCT/Aga Khan (project nº 330842553) and FCT/MCTES (UIDB/05608/2020 and UIDP/05608/2020) – H&TRC.
dc.description.abstractIntroduction: Sickle Cell Anemia (SCA) is an inherited disease caused by a single nucleotide substitution in the HBB gene, that encodes for the B-globin subunit of hemoglobin. Although patients’ phenotypes are very heterogeneous, in terms of severity and life span, patients homozygous for this mutation usually exhibit chronic hemolytic anemia, report frequent and severe painful crises, and present extensive organ damage. This study aimed to identify genetic modifiers of SCA phenotypes and severity in the HBB Cluster, HBS1L-MYB intergenic region, BCL11A, KLF1, FOX3, and ZBTB7A genes, and assess their influence and prevalence in an Angolan population.eng
dc.identifier.citationGinete C, Delgadinho M, Santos B, Silva C, Guerreiro P, Brito M, et al. Genetic modifiers of sickle cell anemia severity in an Angolan cohort. In: 27th Annual meeting of the Portuguese Society of Human Genetics, Instituto Superior Técnico, November 23-25, 2023. Medicine. 2025;104(4):e39478.
dc.identifier.urihttp://hdl.handle.net/10400.21/21799
dc.language.isoeng
dc.peerreviewedyes
dc.publisherLippincott, Williams & Wilkins
dc.relationFCT/Aga Khan (project nº 330842553)
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectSickle cell anemia
dc.subjectGenetic modifiers
dc.subjectAngola
dc.subjectFCT_UIDB/05608/2020
dc.subjectFCT_UIDP/05608/2020
dc.subjectFCT/Aga Khan_project nº 330842553
dc.titleGenetic modifiers of sickle cell anemia severity in an Angolan cohorteng
dc.typeconference poster
dspace.entity.typePublication
oaire.citation.conferenceDate2023-11
oaire.citation.conferencePlaceLisboa, Portugal
oaire.citation.titleMedicine
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameHonrado Ginete
person.familyNameNeves Delgadinho
person.familyNameSilva
person.familyNameBrito
person.givenNameAna Catarina
person.givenNameMariana Isabel
person.givenNameCarina
person.givenNameMiguel
person.identifierCAJ-5082-2022
person.identifier.ciencia-id8715-F62E-1E0F
person.identifier.ciencia-id231E-02E3-D9A9
person.identifier.ciencia-id2411-5936-0820
person.identifier.ciencia-id231F-F341-7E93
person.identifier.orcid0000-0002-2334-782X
person.identifier.orcid0000-0003-0586-9154
person.identifier.orcid0000-0003-1021-7935
person.identifier.orcid0000-0001-6394-658X
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id55258764900
person.identifier.scopus-author-id35224551000
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relation.isAuthorOfPublication.latestForDiscoverydfb2fbba-17ff-42fb-905a-fcfc8f326e1c

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