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Haplotype distribution and genotypic diversity among Angolan children with sickle cell disease

Bibliographic Details
Main Author: Delgadinho, Mariana
Publication Date: 2021
Other Authors: Santos, Brígida, Brito, Miguel
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://hdl.handle.net/10400.21/13097
Summary: Sickle cell disease (SCD) is an inherited blood disorder that affects over 300,000 newborns worldwide every year. Despite being a monogenic disease, SCD shows a remarkably high clinical heterogeneity, and analysis of the HBB gene cluster has revealed five distinct haplotypes: Senegal (SEN), Benin (BEN), Central African Republic (CAR), Cameroon (CAM), and Arab-Indian (ARAB). The aim of this study was to assess the frequency of HBB haplotypes, as well as to correlate other genetic predictors that could have an impact on SCD phenotype in an Angolan pediatric population.
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network_name_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
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spelling Haplotype distribution and genotypic diversity among Angolan children with sickle cell diseaseBlood disorderSickle cell diseaseChildrenAngolaFCT_Aga Khan (project no. 330842553)FCT_UIDB/05608/2020FCT_UIDP/05608/2020Sickle cell disease (SCD) is an inherited blood disorder that affects over 300,000 newborns worldwide every year. Despite being a monogenic disease, SCD shows a remarkably high clinical heterogeneity, and analysis of the HBB gene cluster has revealed five distinct haplotypes: Senegal (SEN), Benin (BEN), Central African Republic (CAR), Cameroon (CAM), and Arab-Indian (ARAB). The aim of this study was to assess the frequency of HBB haplotypes, as well as to correlate other genetic predictors that could have an impact on SCD phenotype in an Angolan pediatric population.Lippincott Williams & WilkinsRCIPLDelgadinho, MarianaSantos, BrígidaBrito, Miguel2021-03-15T16:36:20Z2021-012021-01-01T00:00:00Zconference objectinfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10400.21/13097eng10.1097/MD.0000000000023585info:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-02-12T10:10:17Zoai:repositorio.ipl.pt:10400.21/13097Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T20:04:49.156042Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Haplotype distribution and genotypic diversity among Angolan children with sickle cell disease
title Haplotype distribution and genotypic diversity among Angolan children with sickle cell disease
spellingShingle Haplotype distribution and genotypic diversity among Angolan children with sickle cell disease
Delgadinho, Mariana
Blood disorder
Sickle cell disease
Children
Angola
FCT_Aga Khan (project no. 330842553)
FCT_UIDB/05608/2020
FCT_UIDP/05608/2020
title_short Haplotype distribution and genotypic diversity among Angolan children with sickle cell disease
title_full Haplotype distribution and genotypic diversity among Angolan children with sickle cell disease
title_fullStr Haplotype distribution and genotypic diversity among Angolan children with sickle cell disease
title_full_unstemmed Haplotype distribution and genotypic diversity among Angolan children with sickle cell disease
title_sort Haplotype distribution and genotypic diversity among Angolan children with sickle cell disease
author Delgadinho, Mariana
author_facet Delgadinho, Mariana
Santos, Brígida
Brito, Miguel
author_role author
author2 Santos, Brígida
Brito, Miguel
author2_role author
author
dc.contributor.none.fl_str_mv RCIPL
dc.contributor.author.fl_str_mv Delgadinho, Mariana
Santos, Brígida
Brito, Miguel
dc.subject.por.fl_str_mv Blood disorder
Sickle cell disease
Children
Angola
FCT_Aga Khan (project no. 330842553)
FCT_UIDB/05608/2020
FCT_UIDP/05608/2020
topic Blood disorder
Sickle cell disease
Children
Angola
FCT_Aga Khan (project no. 330842553)
FCT_UIDB/05608/2020
FCT_UIDP/05608/2020
description Sickle cell disease (SCD) is an inherited blood disorder that affects over 300,000 newborns worldwide every year. Despite being a monogenic disease, SCD shows a remarkably high clinical heterogeneity, and analysis of the HBB gene cluster has revealed five distinct haplotypes: Senegal (SEN), Benin (BEN), Central African Republic (CAR), Cameroon (CAM), and Arab-Indian (ARAB). The aim of this study was to assess the frequency of HBB haplotypes, as well as to correlate other genetic predictors that could have an impact on SCD phenotype in an Angolan pediatric population.
publishDate 2021
dc.date.none.fl_str_mv 2021-03-15T16:36:20Z
2021-01
2021-01-01T00:00:00Z
dc.type.driver.fl_str_mv conference object
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.21/13097
url http://hdl.handle.net/10400.21/13097
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1097/MD.0000000000023585
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 Lippincott Williams & Wilkins
publisher.none.fl_str_mv Lippincott Williams & Wilkins
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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