Hemoglobinopathies
Mostrando 37-48 de 81 artigos, teses e dissertações.
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37. Perfil de expressão das PIP quinases durante a diferenciação eritroide humana in vitro / PIPK expression profile during in vitro differentiation of human erythroid cell
As fosfatidilinositol-fosfato quinases (PIPKs) são uma família de enzimas lipídio quinases responsáveis pela produção do segundo mensageiro PI4,5P2 (fosfatidilinositol 4,5 bifosfato), que tem um importante papel regulatório em uma variedade de processos celulares, inclusive na expressão gênica. As PIPKs são classificadas em 3 subfamílias -PIPK I (
Publicado em: 2009
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38. Detecção e caracterização molecular de talassemia alfa / Detection and molecular characterization of alpha thalassemia
A talassemia alfa é uma síndrome resultante de distúrbios na síntese da cadeia da globina alfa que formam o tetrâmero da molécula da hemoglobina. A talassemia alfa é classificada em quatro tipos de acordo com o número de genes alfa afetado: portador silencioso (-α/αα); traço alfa talassêmico (--/αα ou - α/-α); doe
Publicado em: 2009
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39. Hemoglobinopatias e anemias em gestantes no Hospital Universitário de Campo Grande, MS
The hemoglobinopathies are a group of inherited diseases that are highly variable in clinic diagnosis, from forms that are incompatible with life to asymptomatic heterozygotes carriers, who under stress like pregnancy, may have the disease. The detection of heterozygote carriers is of great importance for public health as they constitute potential sources of
Publicado em: 2008
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40. Polimorfismos de DNA no complexo de genes da betaglobina em indivíduos normais e portadores de hemoglobinopatias do recôncavo baiano
Um complexo de genes localizado no braço curto do cromossomo 11 (11p15.5) conhecido como complexo de genes da β-globina apresenta um elevado número de polimorfismos. A combinação de determinado número de polimorfismos é denominada haplótipo. Seis polimorfismos de restrição no complexo de genes da β-globina (HincII-5ε, HindIII-Gγ,
Publicado em: 2007
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41. HFE gene mutations in Brazilian thalassemic patients
Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene. Interactions between thalassemia and hemochromatosis may further increase iron overload. The ethnic background of the Brazilian population is heterogeneous and studies analyzing the simultaneo
Brazilian Journal of Medical and Biological Research. Publicado em: 13/11/2006
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42. Triagem neonatal para doença falciforme e outras hemoglobinopatias / Neonatal screening for sickle cell disease and others hemoglobinopathies
The hemoglobinopathies are the genetic pathology of higher prevalence in the human race, and among them the most frequent is the Sickle Cell Disease, reaching frequency of at least 1 in 500 individuals of the black race. In Brazil there are the presence of 6.000.000 carriers for this disease. With the neonatal screening, we can evaluate the real frequency of
Publicado em: 2006
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43. alpha-thalassemia, HbS, and beta-globin gene cluster haplotypes in two Afro-Uruguayan sub-populations from northern and southern Uruguay
Hemoglobinopathies are the most common monogenic disorders worldwide; however, they have never been systematically studied from a genetic perspective in Uruguay. In this study, we determined the frequencies of hemoglobin variants in Afro-Uruguayans. A sample of 52 healthy unrelated Afro-Uruguayans from the northern (N = 28) and southern (N = 24) regions of t
Genetics and Molecular Biology. Publicado em: 2006
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44. Polycythemia and Hb Coimbra [beta 99 (G1) Asp -> Glu] in Brazil
We report the clinical and laboratory findings concerning three unrelated Brazilian patients investigated for polycythemia, whose definitive diagnosis could only be established after the presence of Hb Coimbra (b99 Asp ® Glu) was demonstrated. This illustrates the importance of properly investigating hereditary hemoglobinopathies in cases of erythrocytosis
Genetics and Molecular Biology. Publicado em: 2006
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45. Análise crítica do programa de triagem neonatal para detecção de hemoglobinopatias em Dourados - MS
Atualmente o processo de triagem neonatal para hemoglobinopatias é considerado um problema de saúde pública de âmbito mundial. Entre as patologias genéticas, as hemoglobinopatias merecem lugar de destaque. Dados da Organização Mundial da Saúde (OMS) revelam que 270 milhões de pessoas em todo mundo carregam genes que determinam a presença de hemoglo
Publicado em: 2006
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46. PESQUISA DE HEMOGLOBINOPATIAS E TALASSEMIAS EM PACIENTES PORTADORES DE LÚPUS ERITEMATOSO SISTÊMICO.
15 Systemic Lupus Erythematosus is a quintessential multigenic and multifactorial disease, with remarkable clinical and pathogenic complexities. The causes of the SLE total are not known, but it knows that ambient and genetic factors are involved. The observed clinical manifestations in patients to take hold of the SLE are diversified as fatigue, indispositi
Publicado em: 2005
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47. Identificação de variantes de hemoglobina em doadores de sangue
Hemoglobinopathies are the most common genetic diseases and affect a great number of individuals in the world, with diverse clinical complications ranging from the almost unnoticeable to lethal consequences. In Brazil the occurrence of hemoglobinopathies is very frequent and influenced by the ethnical groups that are the basis of populations in different reg
Revista Brasileira de Hematologia e Hemoterapia. Publicado em: 2004-03
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48. Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil
Thalassemias are a heterogeneous group of inherited disorders characterized by a microcytic hypochromic anemia and an imbalance in the synthesis of the globin-chains. Hb C is the second most frequently variant of hemoglobin found in Brazil. The laboratory diagnosis of hemoglobinopathies, including thalassemias, is growing in importance, particularly because
Revista Brasileira de Hematologia e Hemoterapia. Publicado em: 2003-06