Author(s): Brito, Miguel ; Ferreira, J. ; Capriello, I. ; Ginete, Catarina ; Delgadinho, Mariana ; Sebastião, Cruz ; Mendes, M. ; Quinto, F. ; Mavunza, F. ; Vasconcelos, J. ; Cogle, A.
Date: 2022
Persistent ID: http://hdl.handle.net/10400.21/14932
Origin: Repositório Científico do Instituto Politécnico de Lisboa
Subject(s): 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).
