Genotypic Diversity among Angolan Children with Sickle Cell Anemia.

ABSTRACT: 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. This study analyzed clinical and biological data collected from 192 Angolan children. Using N

SUBMITTER: Delgadinho M 

PROVIDER: S-EPMC8158763 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature