Genetic modifiers of sickle cell anemia severity in an Angolan cohort

Ginete, Catarina; Delgadinho, Mariana; Santos, Brígida; Miranda, Armandina; Silva, Carina; Guerreiro, Paulo; Chimusa, Emile R.; Brito, Miguel

http://hdl.handle.net/10400.21/21799

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Abstract(s)

Introduction: Sickle Cell Anemia (SCA) is an inherited disease caused by a single nucleotide substitution in the HBB gene, that encodes for the B-globin subunit of hemoglobin. Although patients’ phenotypes are very heterogeneous, in terms of severity and life span, patients homozygous for this mutation usually exhibit chronic hemolytic anemia, report frequent and severe painful crises, and present extensive organ damage. This study aimed to identify genetic modifiers of SCA phenotypes and severity in the HBB Cluster, HBS1L-MYB intergenic region, BCL11A, KLF1, FOX3, and ZBTB7A genes, and assess their influence and prevalence in an Angolan population.

Description

This research was funded by FCT/Aga Khan (project nº 330842553) and FCT/MCTES (UIDB/05608/2020 and UIDP/05608/2020) – H&TRC.

Keywords

Sickle cell anemia Genetic modifiers Angola FCT_UIDB/05608/2020 FCT_UIDP/05608/2020 FCT/Aga Khan_project nº 330842553

URI

http://hdl.handle.net/10400.21/21799

Citation

Ginete C, Delgadinho M, Santos B, Silva C, Guerreiro P, Brito M, et al. Genetic modifiers of sickle cell anemia severity in an Angolan cohort. In: 27th Annual meeting of the Portuguese Society of Human Genetics, Instituto Superior Técnico, November 23-25, 2023. Medicine. 2025;104(4):e39478.