Alpha Thalassemia
Mostrando 1-12 de 94 artigos, teses e dissertações.
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1. Genetic, laboratory and clinical risk factors in the development of overt ischemic stroke in children with sickle cell disease
ABSTRACT Cerebrovascular disease, particularly stroke, is one of the most severe clinical complications associated with sickle cell disease and is a significant cause of morbidity in both children and adults. Over the past two decades, considerable advances have been made in the understanding of its natural history and enabled early identification and treatm
Hematol., Transfus. Cell Ther.. Publicado em: 2018-06
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2. 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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3. Clinical, hematological and genetic data of a cohort of children with hemoglobin SD
ABSTRACT INTRODUCTION: The hemoglobin FSD is very uncommon in newborn screening programs for sickle cell disease. In the program of Minas Gerais, Brazil, the clinical course of children with hemoglobin SD was observed to be heterogeneous. The objective of this study was to estimate the incidence (1999-2012) and to describe the natural history of a cohort o
Rev. Bras. Hematol. Hemoter.. Publicado em: 2016-09
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4. Hemoglobin A2 values in sickle cell disease patients quantified by high performance liquid chromatography and the influence of alpha thalassemia
BACKGROUND: In sickle cell disease, the quantification of Hb A2 is important for the differential diagnosis between sickle cell anemia (Hb SS) and Hb S/ß0-thalassemia.OBJECTIVE: To determine Hb A2 levels as quantified by high performance liquid chromatography in patients with sickle cell anemia (Hb SS) and with the SC hemoglobinopathy, with or without conco
Rev. Bras. Hematol. Hemoter.. Publicado em: 2015-10
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5. 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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6. 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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7. 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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8. Clinical complications in pregnant women with sickle cell disease: prospective study of factors predicting maternal death or near miss
OBJECTIVE: To evaluate complications in pregnant women with sickle cell disease, especially those leading to maternal death or near miss (severe obstetric complications). METHODS: A prospective cohort of 104 pregnant women registered in the Blood Center of Belo Horizonte (Hemominas Foundation) was followed up at high-risk prenatal units. They belonged
Rev. Bras. Hematol. Hemoter.. Publicado em: 2014-07
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9. Alpha chain hemoglobins with electrophoretic mobility similar to that of hemoglobin S in a newborn screening program
OBJECTIVE: To characterize alpha-chain variant hemoglobins with electric mobility similar to that of hemoglobin S in a newborn screening program. METHODS: βS allele and alpha-thalassemia deletions were investigated in 14 children who had undefined hemoglobin at birth and an electrophoretic profile similar to that of hemoglobin S when they were six months ol
Rev. Bras. Hematol. Hemoter.. Publicado em: 2013
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10. Prevalência de talassemia alfa+ (deleção -3.7) na população adulta do estado do Rio Grande do Norte
A talassemia alfa, doença monogênica mais frequente no mundo, é caracterizada por deleções envolvendo um dos genes (talassemia a+) ou ambos os genes (talassemia a0) de globina alfa localizados no cluster a no cromossomo 16 (16p13.3). A alteração presente na maioria dos casos de talassemia a+ é a deleção de um fragmento de 3.7 kb de DNA (deleção -
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 28/02/2011
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11. Interaction between Hb SS and alpha thalassemia (3.7 kb deletion): a familial study
Revista Brasileira de Hematologia e Hemoterapia. Publicado em: 2011-06
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12. 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