Brito, MiguelFerreira, J.Capriello, I.Ginete, CatarinaDelgadinho, MarianaSebastião, CruzMendes, M.Quinto, F.Mavunza, F.Vasconcelos, J.Cogle, A.2022-08-232022-08-232022-06Brito M, Ferreira J, Capriello I, Ginete C, Delgadinho M, Sebastião C, et al. Genetic variability and disease severity in a cohort of Angolan sickle cell disease patients. In: 4th Global Congress on Sickle Cell Disease [hybrid congress], Paris (France), June 16-18, 2022. Poster 057. HemaSphere. 2022;6(Aug):44-5.http://hdl.handle.net/10400.21/14932Purpose: Sickle Cell Anaemia (SCA) is an inherited autosomal and lethal blood disorder caused by a mutation in the HBB gene that promotes haemoglobin (Hb) polymerization and consequent sickling of red blood cells (RBCs) in hypoxia. Regardless of being a monogenic disease, SCA has a remarkably high clinical heterogeneity in its phenotypic expression. Several factors have been shown to modulate the clinical manifestations of SCA, namely genetic markers such as α-thalassaemia and β-globin cluster haplotypes, that can modulate biological parameters like the degree of haemolytic anaemia or the levels of foetal haemoglobin (HbF).engSickle cell diseaseThalassemiaFetal hemoglobinAngolaconference object10.1097/01.HS9.0000873120.65347.33