Alpha Globin
Mostrando 1-12 de 431 artigos, teses e dissertações.
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1. Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
Abstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromos
Genet. Mol. Biol.. Publicado em: 02/10/2017
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2. Prevalence of βS-globin gene haplotypes, α-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Paraná, Brazil
The aim of this study was to determine the frequency of beta S-globin gene (βS globin) haplotypes and alpha thalassemia with 3.7 kb deletion (−α3.7kb thalassemia) in the northwest region of Paraná state, and to investigate the oxidative and clinical-hematological profile of βS globin carriers in this population. Of the 77 samples analyzed, 17 were Hb S
Genet. Mol. Biol.. Publicado em: 21/08/2015
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3. Investigating alpha-globin structural variants: a retrospective review of 135,000 Brazilian individuals
Background: Brazil has a multiethnic population with a high diversity of hemoglobinopathies. While screenings for beta-globin mutations are far more common, alterations affecting alpha-globin genes are usually more silent and less well known. The aim of this study was to describe the results of a screening program for alpha-globin gene mutations in a repres
Rev. Bras. Hematol. Hemoter.. Publicado em: 2015-04
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4. Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia
Objectives: To analyze the frequency of βS-globin haplotypes and alpha-thalassemia, and their influence on clinical manifestations and the hematological profile of children with sickle cell anemia. Method: The frequency of βS-globin haplotypes and alpha-thalassemia and any association with clinical and laboratorial manifestations were determined in 117 si
Rev. Bras. Hematol. Hemoter.. Publicado em: 2014-10
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5. Comment on "Influence of βS-globin haplotypes and hydroxyurea on tumor necrosis factor-alpha levels in sickle cell anemia"
Rev. Bras. Hematol. Hemoter.. Publicado em: 2014-04
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6. Influence of ?S-globin haplotypes and hydroxyurea on tumor necrosis factor-alpha levels in sickle cell anemia
Background: Sickle cell anemia is a chronic inflammatory disease characterized by an increased production of proinflammatory cytokines including tumor necrosis factor-alpha. Hydroxyurea, by decreasing the polymerization of hemoglobin, reduces inflammatory states. The effect of the genetic polymorphisms of sickle cell patients on tumor necrosis factor-alpha
Rev. Bras. Hematol. Hemoter.. Publicado em: 2014-04
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7. Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population
Alpha-thalassemia is the most common inherited disorder of hemoglobin synthesis. Genomic deletions involving the alpha-globin gene cluster on chromosome 16p13.3 are the most frequent molecular causes of the disease. Although common deletions can be detected by a single multiplex gap-PCR, the rare and novel deletions depend on more laborious techniques for th
Brazilian Journal of Medical and Biological Research. Publicado em: 2011-01
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8. Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil
Beta S-globin gene (βS-globin) haplotypes, markers for severe sickle cell anemia (SCA), and the alpha-thalassemia 2 gene 3.7 kb deletion (-α2(3.7 kb) thal) along with demographic and clinical data were investigated in SCA outpatients (n = 125, 63 female and 62 male) in the Brazilian state of Bahia, which has a high prevalence SCA. PCR-RFLP showed that the
Genetics and Molecular Biology. Publicado em: 2008
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9. Fish hemoglobins
Vertebrate hemoglobin, contained in erythrocytes, is a globular protein with a quaternary structure composed of 4 globin chains (2 alpha and 2 beta) and a prosthetic group named heme bound to each one. Having myoglobin as an ancestor, hemoglobin acquired the capacity to respond to chemical stimuli that modulate its function according to tissue requirements f
Brazilian Journal of Medical and Biological Research. Publicado em: 2007-06
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10. Expressão genica diferencial em reticulocitos de pacientes com doença da hemoglobina H / Differential gene expression in reticulocytes of Hemoglobin H disease patients
Hb H disease results from the inactivation of three of the four alfa -globin genes normally present on diploid genome and it is characterized by a moderate to severe chronic hemolytic anemia. Patients usually present microcytosis, hypochromia and poikilocytosis, with 25 to 30% of Hb Bart?s (?4) at birth and 5 to 30% of Hb H (?4) in adult life. Although the m
Publicado em: 2007
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11. Avaliação laboratorial da toxicidade molecular em eritrócitos talassêmicos
Oxygen-derived free radical damage is associated with the molecular toxicity of hemoglobin. Especially in thalassemia syndromes, this toxicity has a relationship with "free" alpha globin concentrations. This study of beta thalassemia trait blood samples from 39 individuals shows that the evaluation of methemoglobin is a sensitive method of indicating molecul
Revista Brasileira de Hematologia e Hemoterapia. Publicado em: 2006-12
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12. The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease
Sickle cell disease (SCD) is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems, especially during vaso-occlusive crises, but also during the steady state of the disease. We determined if the p
Brazilian Journal of Medical and Biological Research. Publicado em: 09/08/2006