5 documents found, page 1 of 1
Análise retrospetiva do desempenho dos participantes no Programa de Morfologia ...
Silva, Susana Pereira; Pereira, Edna; Correia, Helena; Miranda, Armandina; Cardoso, Ana; Silva, Cândido; Ismail, Sara; Barreira, Rui; Miranda, AnaO exame morfológico do sangue periférico é essencial para o diagnóstico clínico de doenças hematológicas e doenças não hematológicas com expressão morfológica no sangue periférico. A avaliação do desempenho dos profissionais deve ser uma prática implementada pelos laboratórios. A participação em programas de avaliação externa da qualidade, em que são enviadas amostras de doentes selecionadas pelos membros do Gr...
External Quality Assessment in peripheral blood morphology - PNAEQ experience
Miranda, Armandina; Correia, Helena; Silva, Susana Pereira; Pereira, Edna; Cardoso, Ana; Silva, Cândido; Ismail, Sara; Barreira, Rui; Miranda, AnaPeripheral blood morphology is a very important tool for the clinical diagnosis in haematology disorders. The National External Quality Assessment Program (PNAEQ), aims to promote EQA programs, using Expert Working Groups as methodology (WG). The Haematology WG was formalized in 2013 and has the collaboration of national experts, namely from hospital and oncology entities, who voluntarily contribute with sample...
Alpha-thalassemia due to novel deletions and complex rearrangements in the subt...
Ferrão, José; Silva, Marisa; Gonçalves, Lúcia; Gomes, Susana; Loureiro, Pedro; Coelho, Andreia; Miranda, Armandina; Seuanes, Filomena; Batalha Reis, AnaIntroduction: Inherited deletions removing the α-globin genes and/or their upstream regulatory elements (MCSs) give rise to alpha-thalassemia, one of the most common genetic recessive disorders worldwide. The pathology is characterized by microcytic hypochromic anemia due to reduction of the α-globin chain synthesis, which are essential for hemoglobin tetramerization. Material and Methods: In order to clarify t...
Alpha-thalassemia due to novel deletions and complex rearrangements in the subt...
Ferrão, José; Silva, Marisa; Gonçalves, Lúcia; Gomes, Susana; Loureiro, Pedro; Coelho, Andreia; Miranda, Armandina; Seuanes, Filomena; Batalha Reis, AnaIntroduction: Inherited deletions removing the α-globin genes and/or their upstream regulatory elements (MCSs) give rise to alpha-thalassemia, one of the most common genetic recessive disorders worldwide. The pathology is characterized by microcytic hypochromic anemia due to reduction of the α-globin chain synthesis, which are essential for hemoglobin tetramerization. Material and Methods: In order to clarify t...
Unusual molecular mechanisms in the origin of alpha-thalassemia
Ferrão, José; Silva, Marisa; Gonçalves, Lúcia; Gomes, Susana; Loureiro, Pedro; Coelho, Andreia; Miranda, Armandina; Seuanes, Filomena; Batalha Reis, AnaHemoglobin (Hb) is a protein responsible for oxygen transportation from lungs to the entire body. It is composed by four globular subunits - the globins - each with a central core containing a heme molecule. Globins are encoded by the α- and β-globin gene clusters located at 16p13.3 and 11p15.5, respectively. The pattern of globin gene expression during development is precisely controlled by the interaction of ...