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Genetic variability and disease severity in a cohort of Angolan sickle cell disease patients

2022-06Conference object Open access
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dc.contributor.authorBrito, Miguel
dc.contributor.authorFerreira, J.
dc.contributor.authorCapriello, I.
dc.contributor.authorGinete, Catarina
dc.contributor.authorDelgadinho, Mariana
dc.contributor.authorSebastião, Cruz
dc.contributor.authorMendes, M.
dc.contributor.authorQuinto, F.
dc.contributor.authorMavunza, F.
dc.contributor.authorVasconcelos, J.
dc.contributor.authorCogle, A.
dc.date.accessioned2022-08-23T14:13:00Z
dc.date.available2022-08-23T14:13:00Z
dc.date.issued2022-06
dc.description.abstractPurpose: Sickle Cell Anaemia (SCA) is an inherited autosomal and lethal blood disorder caused by a mutation in the HBB gene that promotes haemoglobin (Hb) polymerization and consequent sickling of red blood cells (RBCs) in hypoxia. Regardless of being a monogenic disease, SCA has a remarkably high clinical heterogeneity in its phenotypic expression. Several factors have been shown to modulate the clinical manifestations of SCA, namely genetic markers such as α-thalassaemia and β-globin cluster haplotypes, that can modulate biological parameters like the degree of haemolytic anaemia or the levels of foetal haemoglobin (HbF).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBrito M, Ferreira J, Capriello I, Ginete C, Delgadinho M, Sebastião C, et al. Genetic variability and disease severity in a cohort of Angolan sickle cell disease patients. In: 4th Global Congress on Sickle Cell Disease [hybrid congress], Paris (France), June 16-18, 2022. Poster 057. HemaSphere. 2022;6(Aug):44-5.pt_PT
dc.identifier.doi10.1097/01.HS9.0000873120.65347.33pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/14932
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.relation.publisherversionhttps://journals.lww.com/hemasphere/Fulltext/2022/08004/P_057__GENETIC_VARIABILITY_AND_DISEASE_SEVERITY_IN.79.aspxpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectSickle cell diseasept_PT
dc.subjectThalassemiapt_PT
dc.subjectFetal hemoglobinpt_PT
dc.subjectAngolapt_PT
dc.titleGenetic variability and disease severity in a cohort of Angolan sickle cell disease patientspt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.endPage45pt_PT
oaire.citation.startPage44pt_PT
oaire.citation.titleHemaSpherept_PT
oaire.citation.volume6pt_PT
person.familyNameBrito
person.familyNameHonrado Ginete
person.familyNameNeves Delgadinho
person.givenNameMiguel
person.givenNameAna Catarina
person.givenNameMariana Isabel
person.identifierCAJ-5082-2022
person.identifier.ciencia-id231F-F341-7E93
person.identifier.ciencia-id8715-F62E-1E0F
person.identifier.ciencia-id231E-02E3-D9A9
person.identifier.orcid0000-0001-6394-658X
person.identifier.orcid0000-0002-2334-782X
person.identifier.orcid0000-0003-0586-9154
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id35224551000
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
relation.isAuthorOfPublicationdfb2fbba-17ff-42fb-905a-fcfc8f326e1c
relation.isAuthorOfPublicationca55aab6-9a58-4f79-ab79-20513414099f
relation.isAuthorOfPublication.latestForDiscovery4252d8e0-800c-4d67-8b13-0b711d860669

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