11 documents found, page 1 of 2
Sickle cell trait in São Tomé e Príncipe: a population-based prevalence study i...
Queiroz, Guilherme; Monteiro, Celdidy; Manco, Licínio; Relvas, Luís; Trovoada, Maria de Jesus; Leite, Andreia; Bento, CelesteBackground Sickle Cell Disorder is Africa’s most prevalent genetic disease. Yet, it remains a neglected condition, with high mortality under-five, and a lack of population-based studies in the region. This is the first of its kind in São Tomé e Príncipe, aiming to estimate the prevalence of sickle cell trait and other haemoglobin variants in women of reproductive age and its associated factors. Methods: We cond...
Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency ...
Manco, Licínio; Bento, Celeste; Relvas, Luís; Maia, Tabita; Ribeiro, Maria LetíciaIntroduction: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme defect in the world, affecting more than 500 million people. In Portugal, the average frequency of G6PD deficiency in males was estimated at about 0.5% and since the year 2000 several G6PD-deficient alleles have been identified. The main goal of this study was to improve the knowledge on the molecular heterogeneity of G6...
Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phospha...
Manco, Licínio; Bento, Celeste; Victor, Bruno L.; Pereira, Janet; Relvas, Luís; Brito, Rui M.; Seabra, Carlos; Maia, Tabita M.; Ribeiro, M. Letícia
Polymorphic variations influencing fetal hemoglobin levels: Association study i...
Pereira, Clara; Relvas, Luís; Bento, Celeste; Abade, Augusto; Ribeiro, M. Letícia; Manco, Licínio
Intragenic haplotype analysis of common HFE mutations in the Portuguese population
Toste, Sandra; Relvas, Luís; Pinto, Catarina; Bento, Celeste; Abade, Augusto; Ribeiro, M. Letícia; Manco, Licínio
Cianose Central Neonatal: nem sempre cardíaca, nem sempre pulmonar
Spinola, Ana Isabel Franco; Guilherme, Raquel Ferreira; Bento, Celeste; Relvas, Luís; Oliveira, Ana Catarina; Neves, José Farela; Ribeiro, Maria LetíciaA cianose congénita está frequentemente associada a patologias que diminuem a oxigenação da hemoglobina (Hb) ou sua capacidade para libertar o oxigénio (O2). Descritos 3 casos de cianose neonatal que apresentavam baixa saturação tecidular de O2, com fraca resposta à oxigenoterapia e níveis de MetaHb elevados. A cianose diminuiu gradualmente, concomitantemente com a redução dos níveis de MetaHb, sugestivo da pre...
Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases
Bento, Celeste; Percy, Melanie J.; Gardie, Betty; Maia, Tabita Magalhães; van Wijk, Richard; Perrotta, Silverio; Della Ragione, Fulvio; Almeida, Helena
Hb Plasencia [α125(H8)Leu→Arg (α2)] is a Frequent Cause ofα+-Thalassemia in the...
Cunha, Elizabete; Bento, Celeste; Oliveira, Ana; Relvas, Luís; Neves, Joana; Gameiro, Mariline; Barros, Cristina; Araújo, Ana; Macedo, Ana; Rocha, Paula
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed ...
Bento, Celeste; Almeida, Helena; Maia, Tabita M.; Relvas, Luís; Oliveira, Ana C.; Rossi, Cédric; Girodon, François; Fernandez-Lago, Carlos
Transient Neonatal Cyanosis Associated With a New Hb F Variant
Bento, Celeste; Magalhães Maia, Tabita; Carvalhais, Ines; Moita, Filipa; Abreu, Gabriela; Relvas, Luís; Pereira, Alexandra; Farela Neves, José