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Orientador(es)
Resumo(s)
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).
Descrição
Palavras-chave
Sickle cell disease Thalassemia Fetal hemoglobin Angola
Contexto Educativo
Citação
Brito 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.