Genotypic diversity among Angolan children with sickle cell anemia

Detalhes bibliográficos
Autor(a) principal: Delgadinho, Mariana
Data de Publicação: 2021
Outros Autores: Ginete, Catarina, Santos, Brígida, Miranda, Armandina, Brito, Miguel
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.21/13372
Resumo: Project FCT/Aga Khan (nº 330842553).
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spelling Genotypic diversity among Angolan children with sickle cell anemiaSickle cell anemiaFetal hemoglobinHBB haplotypesBCL11ABGLT3HBG2HBS1L-MYBNGSAngolaProject FCT/Aga Khan (nº 330842553)FCT_UIDB/05608/2020FCT_UIDP/05608/2020Project FCT/Aga Khan (nº 330842553).FCT_UIDB/05608/2020. FCT_UIDP/05608/2020.Background. Sickle cell anemia (SCA) is an inherited blood disorder that affects over 300,000 newborns worldwide every year, being particularly prevalent in Sub-Saharan Africa. Despite being a monogenic disease, SCA shows a remarkably high clinical heterogeneity. Several studies have already demonstrated the existence of some polymorphisms that can provide major clinical benefits, producing a mild phenotype. Moreover, the existence of distinct haplotypes can also influence the phenotype patterns of certain populations, leading to different clinical manifestations. Our aim was to assess the association between polymorphisms in genes previously related to SCA disease severity in an Angolan pediatric population. Methods. This study analyzed clinical and biological data collected from 192 Angolan children. Using NGS data, we classified the HBB haplotypes based on four previously described SNPs (rs3834466, rs28440105, rs10128556, and rs968857) and the genotype for the SNPs in HBG2 (rs7482144), BCL11A (rs4671393, rs11886868, rs1427407, rs7557939), HBS1L-MYB (rs66650371) and BGLT3 (rs7924684) genes. Results. The CAR haplotype was undoubtedly the most common HBB haplotype in our population. The HbF values and the ratio of gamma chains were statistically significant for almost all of the variants studied. We reported for the first time an association between rs7924684 in the BGLT3 gene and gamma chains ratio. Conclusions. The current findings emphasize the importance personalized medicine would have if applied to SCA patient care since some of the variants studied might predict the phenotype and the overall response to treatmentMDPIRCIPLDelgadinho, MarianaGinete, CatarinaSantos, BrígidaMiranda, ArmandinaBrito, Miguel2021-05-20T12:06:22Z2021-052021-05-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.21/13372engDelgadinho M, Ginete C, Santos B, Miranda A, Brito M. Genotypic diversity among Angolan children with sickle cell anemia. Int J Environ Res Public Health. 2021;18(10):5417.10.3390/ijerph18105417info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-01-17T02:16:15Zoai:repositorio.ipl.pt:10400.21/13372Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:21:04.079293Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Genotypic diversity among Angolan children with sickle cell anemia
title Genotypic diversity among Angolan children with sickle cell anemia
spellingShingle Genotypic diversity among Angolan children with sickle cell anemia
Delgadinho, Mariana
Sickle cell anemia
Fetal hemoglobin
HBB haplotypes
BCL11A
BGLT3
HBG2
HBS1L-MYB
NGS
Angola
Project FCT/Aga Khan (nº 330842553)
FCT_UIDB/05608/2020
FCT_UIDP/05608/2020
title_short Genotypic diversity among Angolan children with sickle cell anemia
title_full Genotypic diversity among Angolan children with sickle cell anemia
title_fullStr Genotypic diversity among Angolan children with sickle cell anemia
title_full_unstemmed Genotypic diversity among Angolan children with sickle cell anemia
title_sort Genotypic diversity among Angolan children with sickle cell anemia
author Delgadinho, Mariana
author_facet Delgadinho, Mariana
Ginete, Catarina
Santos, Brígida
Miranda, Armandina
Brito, Miguel
author_role author
author2 Ginete, Catarina
Santos, Brígida
Miranda, Armandina
Brito, Miguel
author2_role author
author
author
author
dc.contributor.none.fl_str_mv RCIPL
dc.contributor.author.fl_str_mv Delgadinho, Mariana
Ginete, Catarina
Santos, Brígida
Miranda, Armandina
Brito, Miguel
dc.subject.por.fl_str_mv Sickle cell anemia
Fetal hemoglobin
HBB haplotypes
BCL11A
BGLT3
HBG2
HBS1L-MYB
NGS
Angola
Project FCT/Aga Khan (nº 330842553)
FCT_UIDB/05608/2020
FCT_UIDP/05608/2020
topic Sickle cell anemia
Fetal hemoglobin
HBB haplotypes
BCL11A
BGLT3
HBG2
HBS1L-MYB
NGS
Angola
Project FCT/Aga Khan (nº 330842553)
FCT_UIDB/05608/2020
FCT_UIDP/05608/2020
description Project FCT/Aga Khan (nº 330842553).
publishDate 2021
dc.date.none.fl_str_mv 2021-05-20T12:06:22Z
2021-05
2021-05-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.21/13372
url http://hdl.handle.net/10400.21/13372
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Delgadinho M, Ginete C, Santos B, Miranda A, Brito M. Genotypic diversity among Angolan children with sickle cell anemia. Int J Environ Res Public Health. 2021;18(10):5417.
10.3390/ijerph18105417
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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