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Síndromes falciformes:
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Resumo(s)
As Síndromes Falciformes incluem as hemoglobinopatias em que a mutação falciforme pode ser herdada com outra mutação do gene que codifica a β-globina. Dentro destas podemos encontrar portadores de hemoglobina S ou pessoas com a doença falciforme.
A doença falciforme é uma doença hematológica que afeta milhões de pessoas em todo o mundo. Na doença falciforme, os glóbulos vermelhos apresentam forma anormal (forma falciforme) e interrompem o fluxo sanguíneo normal, causando vaso-oclusão. Como consequência, surge isquemia e inflamação, associado a sintomas característicos da doença como crises dolorosas.
Recentemente, surgiram novas opções terapêuticas farmacológicas como a L-glutamina, o voxelotor e o crizanlizumab como alternativa à hidroxiureia e numa tentativa de diminuir a frequência das transfusões sanguíneas. O transplante de células estaminais hematopoiéticas e, mais recentemente, a terapia genética, constituem as únicas abordagens terapêuticas curativas.
Os métodos de diagnóstico atualmente utilizados são acessíveis nos países desenvolvidos, mas menos acessíveis nos países em vias de desenvolvimento, o que acaba por ser uma barreira ao diagnóstico precoce da doença. Estão a ser desenvolvidas técnicas inovadoras que possam estar mais acessíveis a todos. O rastreio neonatal da Drepanocitose, já implementado em vários países, após um estudo piloto em Lisboa e Setúbal, foi alargado a todo o nosso país, desde fevereiro de 2022, com vista a aferir a necessidade de incluir a drepanocitose no painel das doenças abrangidas pelo Programa Nacional de Rastreio Neonatal.
Sickle Cell Syndromes include hemoglobinopathies in which the sickle cell mutation can be inherited with another mutation in the gene that encodes β-globin. Within these we can find people with sickle cell traits or with sickle cell disease. Sickle cell disease is a hematological disease that affects millions of people worldwide. In sickle cell disease, red blood cells have an abnormal shape (sickle-shaped) and interrupt the normal blood flow, causing vaso-occlusion. As a result, ischemia and inflammation appear, associated with characteristic symptoms of the disease, such as painful crises. Recently, several new therapeutic options have emerged such as L-glutamine, voxelotor and crizanlizumab as an alternative to hydroxyurea and in an attempt to reduce the frequency of blood transfusions. Hematopoietic stem cell transplantation and, more recently, gene therapy constitute the only curative therapeutic approaches. The diagnostic methods currently used are accessible in developed countries, but less accessible in developing countries, which turns out to be a barrier to early diagnosis of the disease. Innovative techniques that can be more accessible to all are being developed. The neonatal screening for sickle cell disease, already implemented in several countries, after a pilot study in Lisbon and Setúbal was extended to the whole country, since February 2022, , in order to assess the need to include sickle cell disease in the panel of diseases covered by the National Neonatal Screening Program.
Sickle Cell Syndromes include hemoglobinopathies in which the sickle cell mutation can be inherited with another mutation in the gene that encodes β-globin. Within these we can find people with sickle cell traits or with sickle cell disease. Sickle cell disease is a hematological disease that affects millions of people worldwide. In sickle cell disease, red blood cells have an abnormal shape (sickle-shaped) and interrupt the normal blood flow, causing vaso-occlusion. As a result, ischemia and inflammation appear, associated with characteristic symptoms of the disease, such as painful crises. Recently, several new therapeutic options have emerged such as L-glutamine, voxelotor and crizanlizumab as an alternative to hydroxyurea and in an attempt to reduce the frequency of blood transfusions. Hematopoietic stem cell transplantation and, more recently, gene therapy constitute the only curative therapeutic approaches. The diagnostic methods currently used are accessible in developed countries, but less accessible in developing countries, which turns out to be a barrier to early diagnosis of the disease. Innovative techniques that can be more accessible to all are being developed. The neonatal screening for sickle cell disease, already implemented in several countries, after a pilot study in Lisbon and Setúbal was extended to the whole country, since February 2022, , in order to assess the need to include sickle cell disease in the panel of diseases covered by the National Neonatal Screening Program.
Descrição
Trabalho Final de Mestrado Integrado, Ciências Farmacêuticas, 2022, Universidade de Lisboa, Faculdade de Farmácia.
Palavras-chave
Síndromes falciformes Doença falciforme Fisiopatologia Terapêutica farmacológica Diagnóstico Mestrado Integrado - 2022