Genetic variability and disease severity in a cohort of Angolan sickle cell disease patients

• Main Author: Brito, Miguel
• Publication Date: 2022
• Other Authors: Ferreira, J., Capriello, I., Ginete, Catarina, Delgadinho, Mariana, Sebastião, Cruz, Mendes, M., Quinto, F., Mavunza, F., Vasconcelos, J., Cogle, A.
• Language: eng
• Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
• Download full: http://hdl.handle.net/10400.21/14932
• topic: Sickle cell disease; Thalassemia; Fetal hemoglobin; Angola

Purpose: 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).