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

Delgadinho, Mariana; Santos, Brígida; Brito, Miguel

http://hdl.handle.net/10400.21/13097

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Authors

Delgadinho, Mariana

Santos, Brígida

Brito, Miguel

Abstract(s)

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.

Description

FCT/Aga Khan (project no. 330842553).
FCT_UIDB/05608/2020
FCT_UIDP/05608/2020

Keywords

Blood disorder Sickle cell disease Children Angola FCT_Aga Khan (project no. 330842553) FCT_UIDB/05608/2020 FCT_UIDP/05608/2020

URI

http://hdl.handle.net/10400.21/13097

Citation

Delgadinho M, Santos B, Brito M. Haplotype distribution and genotypic diversity among Angolan children with sickle cell disease. In: Proceedings of the 24th Annual Meeting of the Portuguese Society of Human Genetics (SPGH – Sociedade Portuguesa de Genética Humana). Medicine. 2021;100(4):e23585. poster 28.