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Influência da variabilidade genética nos níveis da hemoglobina fetal
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A anemia falciforme (SCD) é a hemoglobinopatia mais frequente no mundo. É uma doença tipicamente mendeliana, com um único polimorfismo (SNP) na sua origem, que provoca uma alteração estrutural na hemoglobina (Hb), originando a HbS, Hbα2β2 6Glu -> Val.
Contudo, a SCD é uma doença pleiotrópica e com quadros clínicos muito heterogéneos que têm por base fatores moduladores ambientais e genéticos. Os mais relevantes são o nível de Hb fetal (HbF) e a associação com alelos da talassémia α. O estudo destes fatores tem particular interesse para o prognóstico dos doentes, para a possibilidade de tratamento farmacológico personalizado e para o possível surgimento de novas formas de tratamento para a SCD e restantes hemoglobinopatias num futuro próximo.
Neste trabalho é feita a revisão da SCD, de influência da variabilidade genética no nível da HbF e o estudo do rs4671393 numa população pediátrica angolana, caracterizada anteriormente com eletroforese de Hbs. O SNP em causa varia entre as bases A/G: A é o alelo com efeito modulador positivo nos níveis de HbF; G é o alelo sem efeito. A frequência do alelo modulador na população foi de 30,17%, contudo a sua relação com os níveis de HbF não apresentaram um valor estatisticamente significativo (p>0,05).
Sickle cell anemia (SCD) is the most frequent hemoglobinopathy spread worldwide. It is a typically mendelian disease with a single polymorphism (SNP) at its origin which causes a structural change in hemoglobin (Hb), Hbα2β2Glu->Val, resulting in HbS However, SCD is a pleiotropic disease and has very heterogeneous clinical features which are based on environmental and genetic modulators. The most relevant is fetal Hb (HbF) level and the association with α thalassemia alleles. The study of these factors is of particular interest for: patient prognosis; personalized pharmaceutical treatments; finding out new therapies for SCD and other hemoglobinopathies in the near future. This work is a review of SCD, the influence of genetic variability on HbF level and the study of rs4671393 in a pediatric population from Angolan previously characterized with Hbs electrophoresis. This SNP varies between bases A / G: A is associated with positive modulating effect on Hb levels; G is the none effect allele. The frequency of the effect allele for this population was 30.17% but it’s correlation with HbF levels did not present a statistically significant value (p> 0.05).
Sickle cell anemia (SCD) is the most frequent hemoglobinopathy spread worldwide. It is a typically mendelian disease with a single polymorphism (SNP) at its origin which causes a structural change in hemoglobin (Hb), Hbα2β2Glu->Val, resulting in HbS However, SCD is a pleiotropic disease and has very heterogeneous clinical features which are based on environmental and genetic modulators. The most relevant is fetal Hb (HbF) level and the association with α thalassemia alleles. The study of these factors is of particular interest for: patient prognosis; personalized pharmaceutical treatments; finding out new therapies for SCD and other hemoglobinopathies in the near future. This work is a review of SCD, the influence of genetic variability on HbF level and the study of rs4671393 in a pediatric population from Angolan previously characterized with Hbs electrophoresis. This SNP varies between bases A / G: A is associated with positive modulating effect on Hb levels; G is the none effect allele. The frequency of the effect allele for this population was 30.17% but it’s correlation with HbF levels did not present a statistically significant value (p> 0.05).
Descrição
Trabalho Final de Mestrado Integrado, Ciências Farmacêuticas, Universidade de Lisboa, Faculdade de Farmácia, 2016
Palavras-chave
Anemia falciforme Fatores moduladores Hemoglobina fetal Polimorfismo rs4671393 Mestrado Integrado - 2016