2 documents found, page 1 of 1
Preliminary findings from the follow-up of pregnant sickle cell disease patient...
Brito, Miguel; Ginete, Catarina; Ferreira, J.; Delgadinho, Mariana; Sebastião, Cruz; Mateus, A.; Mendes, M.; Quinto, F.; Simão, F.; Fernandes, F.Background: In Angola, the prevalence of Sickle Cell Disease (SCD) is almost 2%, and the carriers reach 21% of the population. Although its presentation tends to be very heterogeneous, chronic hemolytic anemia, frequent painful crises, and extensive organ damage are common features of these patients. Pregnancy in SCD patients is associated with an increase in severe outcomes, namely, a high risk of eclampsia an...
Genetic variability and disease severity in a cohort of Angolan sickle cell dis...
Brito, Miguel; Ferreira, J.; Capriello, I.; Ginete, Catarina; Delgadinho, Mariana; Sebastião, Cruz; Mendes, M.; Quinto, F.; Mavunza, F.; Vasconcelos, J.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 manif...