A base genética das anemias
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2021
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As anemias são um dos distúrbios hematológicos mais comuns. Um problema de
saúde publica a nível mundial, caracterizado por uma alteração hematológica que ocorre
com frequência. Definem-se em termos clínicos por uma redução do volume
corpuscular médio de hemácias, tendo em conta as características fisiológicas do
indivíduo, assim como a sua idade e o sexo.
As anemias com base genética, designadas por hemoglobinopatias, são doenças
autossómicas recessivas que têm origem em alterações genéticas.
A investigação nesta área tem possibilitado aprofundar conhecimentos sobre a
patologia, possibilitando a descoberta de novas terapêuticas para melhorar a qualidade
de vida do individuo.
Com o objetivo de aprofundar conhecimentos sobre anemias, nomeadamente as
anemias hereditárias e identificar doentes com estas anemias, foram realizados uma
revisão bibliográfica e um questionário aos utentes de farmácia comunitária e à
população inscrita nas instituições Anemia Working Group Portugal (AWGP) e
Associação Portuguesa de Pais e Doentes com Hemoglobinopatias (APPDH).
A identificação de doentes com anemias hereditárias no seio da farmácia
comunitária foi escassa, uma vez que estes doentes obtêm a sua medicação na farmácia
hospitalar. A maioria dos inquiridos com anemias hereditárias foi identificada através
das instituições mencionadas.
Os profissionais de saúde devem ter total conhecimento sobre as
hemoglobinopatias para terem um papel ativo no seu diagnóstico e sobre os seus
sintomas.
Anemias are one of the most common hematological disorders. A worldwide public health problem characterized by a hematological change that occurs frequently. Defined in clinical terms by a reduction in the average corpuscular volume of the red blood cells, considering the individual’s physiological characteristics, as well as his age and sex. The anemia with genetic base, called hemoglobinopathies, are autosomal recessive diseases that originate from genetic alterations. The research in this area has made it possible to improve the knowledge about the pathology, enabling and discovery of new therapies to improve the individual’s quality of life. To deepen knowledge about anemias, namely hereditary anemias and to identify patients with these anemias, a bibliographic review and a questionnaire were carried out to community pharmacy users and the population enrolled in the institutions Anemia Working Group Portugal (AWGP) and the Portuguese Association of Parents and Patients with Hemoglobinopathies (APPDH). The identification of patients with hereditary anemia within the pharmacy community was scarce, considering the access to hospital pharmacy that they have. Most of the respondents with this condition were identified through the mentioned institutions. The health professionals must have full control of all hemoglobinopathies so they could play an active role in their diagnosis and symptoms.
Anemias are one of the most common hematological disorders. A worldwide public health problem characterized by a hematological change that occurs frequently. Defined in clinical terms by a reduction in the average corpuscular volume of the red blood cells, considering the individual’s physiological characteristics, as well as his age and sex. The anemia with genetic base, called hemoglobinopathies, are autosomal recessive diseases that originate from genetic alterations. The research in this area has made it possible to improve the knowledge about the pathology, enabling and discovery of new therapies to improve the individual’s quality of life. To deepen knowledge about anemias, namely hereditary anemias and to identify patients with these anemias, a bibliographic review and a questionnaire were carried out to community pharmacy users and the population enrolled in the institutions Anemia Working Group Portugal (AWGP) and the Portuguese Association of Parents and Patients with Hemoglobinopathies (APPDH). The identification of patients with hereditary anemia within the pharmacy community was scarce, considering the access to hospital pharmacy that they have. Most of the respondents with this condition were identified through the mentioned institutions. The health professionals must have full control of all hemoglobinopathies so they could play an active role in their diagnosis and symptoms.
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Orientação: João Guilherme Costa
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MESTRADO INTEGRADO EM CIÊNCIAS FARMACÊUTICAS, CIÊNCIAS FARMACÊUTICAS, HEMOGLOBINOPATIAS, ANEMIA, PHARMACEUTICAL SCIENCES, HEMOGLOBINOPATHIES