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

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Resumo: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.
Autores principais:Delgadinho, Mariana
Outros Autores:Santos, Brígida; Brito, Miguel
Assunto:Blood disorder Sickle cell disease Children Angola FCT_Aga Khan (project no. 330842553) FCT_UIDB/05608/2020 FCT_UIDP/05608/2020
Ano:2021
País:Portugal
Tipo de documento:documento de conferência
Tipo de acesso:acesso aberto
Instituição associada:Instituto Politécnico de Lisboa
Idioma:inglês
Origem:Repositório Científico do Instituto Politécnico de Lisboa

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