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β-Hemoglobinopatias: diagnóstico laboratorial e abordagens terapêuticas
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O presente documento encontra-se dividido em duas partes, o relatório de estágio e a monografia.
O relatório de estágio compreende as atividades realizadas e os conhecimentos adquiridos durante o período de estágio, efetuado no Laboratório de Análises Clínicas e Diagnósticos Médicos SYNLAB Lisboa, no âmbito do Mestrado em Análises Clínicas da Faculdade de Farmácia da Universidade de Lisboa. Ao longo do relatório são descritas as principais atividades desenvolvidas nas valências laboratoriais de Fase Pré-Analítica, Microbiologia, Química Clínica e Fase Pós-Analítica.
A monografia consiste numa revisão literária sobre o tema: “β-Hemoglobinopatias: diagnóstico laboratorial e abordagens terapêuticas”. As β-hemoglobinopatias são patologias provocadas por mutações no gene da β-globina, que são responsáveis pelo aparecimento de diferentes tipos de hemoglobina ou por uma deficiência na síntese das cadeias de β-globina. Encontram-se disseminadas pela população mundial, sendo das doenças monogénicas mais comuns e a sua prevalência tem vindo a aumentar. A monografia pretende contribuir para a compreensão da etiologia, genética, fisiopatologia, epidemiologia e manifestações clínicas das β-hemoglobinopatias mais relevantes em termos clínicos e de prevalência, a β-talassemia e a Drepanocitose, também conhecida como Anemia de Células Falciformes. Serão igualmente abordados outros tipos de β-hemoglobinopatias existentes, para além das anteriormente referidas.
Ao longo da monografia, serão também descritos os diversos métodos laboratoriais e moleculares de diagnóstico aplicados às β-hemoglobinopatias, bem como referidas as abordagens terapêuticas atualmente utilizadas no tratamento da β-talassemia e da Drepanocitose, bem como aquelas que se perspetivam no futuro.
This document is divided into two parts, the internship report, and the monograph. The internship report covers the activities carried out and the knowledge acquired during the internship period at Laboratório de Análises Clínicas e Diagnósticos Médicos SYNLAB Lisboa, as part of the Master’s Degree in Laboratory Medicine at Faculty of Pharmacy of University of Lisbon. The report describes the main activities carried out in the laboratory’s Pre-Analytical Phase, Microbiology, Clinical Chemistry and Post-Analytical Phase. The monograph in turn, consists of a literature review about the theme: “β-Haemoglobinopathies: laboratory diagnosis and therapeutic approaches”. β-haemoglobinopathies are pathologies caused by mutations in the β-globin gene, which are responsible for different types of haemoglobin or a deficiency in the synthesis of β-globin chains. They are widespread in the world’s population and are one of the most common monogenic diseases, with an increasing prevalence. This monograph aims to contribute to the understanding of the aetiology, genetics, pathophysiology, epidemiology, and clinical manifestations of the most clinically relevant and prevalent β-haemoglobinopathies, such as β-thalassaemia and Sickle Cell Disease. Other types of β-haemoglobinopathies will also be discussed, in addition to those mentioned above. Throughout this monograph, the various laboratory and molecular diagnostic methods applied to β-haemoglobinopathies will also be described, as will the therapeutic approaches currently used to treat β-thalassemia and Sickle Cell Disease, as well as those envisaged for the future.
This document is divided into two parts, the internship report, and the monograph. The internship report covers the activities carried out and the knowledge acquired during the internship period at Laboratório de Análises Clínicas e Diagnósticos Médicos SYNLAB Lisboa, as part of the Master’s Degree in Laboratory Medicine at Faculty of Pharmacy of University of Lisbon. The report describes the main activities carried out in the laboratory’s Pre-Analytical Phase, Microbiology, Clinical Chemistry and Post-Analytical Phase. The monograph in turn, consists of a literature review about the theme: “β-Haemoglobinopathies: laboratory diagnosis and therapeutic approaches”. β-haemoglobinopathies are pathologies caused by mutations in the β-globin gene, which are responsible for different types of haemoglobin or a deficiency in the synthesis of β-globin chains. They are widespread in the world’s population and are one of the most common monogenic diseases, with an increasing prevalence. This monograph aims to contribute to the understanding of the aetiology, genetics, pathophysiology, epidemiology, and clinical manifestations of the most clinically relevant and prevalent β-haemoglobinopathies, such as β-thalassaemia and Sickle Cell Disease. Other types of β-haemoglobinopathies will also be discussed, in addition to those mentioned above. Throughout this monograph, the various laboratory and molecular diagnostic methods applied to β-haemoglobinopathies will also be described, as will the therapeutic approaches currently used to treat β-thalassemia and Sickle Cell Disease, as well as those envisaged for the future.
Descrição
Tese de mestrado, Análises Clínicas, 2024, Universidade de Lisboa, Faculdade de Farmácia.
Palavras-chave
Microbiologia Química clínica β-hemoglobinopatias Diagnóstico laboratorial Abordagens terapêuticas Teses de mestrado - 2024