Triagem de hemoglobinopatias e avaliação da degeneração oxidativa da hemoglobina em trabalhadores portadores do traço falciforme (HbAS), expostos a riscos ocupacionais

Filho, Isaac L. Silva; Gonçalves, Marilda Souza; Adôrno, Elisângela Vitória; Campos, Dayse Pereira; Fleury, Marcos K.

doi:10.1590/s1516-84842005000300009

Cited by 7 publications

(3 citation statements)

References 7 publications

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“…5 Não há dados na literatura sobre a aná-lise de polimorfismos do gene XRCC1 em pacientes com anemia falciforme, os quais apresentam maior susceptibilidade de oxidação da hemoglobina S, resultando em maior geração de espécies reativas de oxigênio, tornando-a mais sensível ao estresse oxidativo do que a hemoglobina normal. 6 As deficiências na capacidade de reparo do DNA devido às mutações ou polimorfismos dos genes de reparo, incluindo o XRCC1, podem levar à instabilidade genômica, a qual resulta nas síndromes de instabilidade cromossômica e aumento do risco de desenvolvimento de vários tipos de tumores. 6 Esta investigação foi realizada para identificar a presença de dois polimorfismos no gene XRCC1, que resultam na substituição de aminoácidos nos códons 194 (Arg194Trp) e 399 (Arg399Gln).…”

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“…6 As deficiências na capacidade de reparo do DNA devido às mutações ou polimorfismos dos genes de reparo, incluindo o XRCC1, podem levar à instabilidade genômica, a qual resulta nas síndromes de instabilidade cromossômica e aumento do risco de desenvolvimento de vários tipos de tumores. 6 Esta investigação foi realizada para identificar a presença de dois polimorfismos no gene XRCC1, que resultam na substituição de aminoácidos nos códons 194 (Arg194Trp) e 399 (Arg399Gln). A casuística constou de amostras de sangue periférico obtidas de pacientes com anemia falciforme e doadores voluntários do Hemocentro Regional de Uberaba-MG, após consentimento informado.…”

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Identificação dos polimorfismos do gene XRCC1 em pacientes com anemia falciforme

Alves

Canalle

Martins

et al. 2007

Rev. Bras. Hematol. Hemoter.

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Carta ao Editor Rev. bras. hematol. hemoter. 2007;29(2):198-199 poderia ser incluído como estratégia para a melhor compreensão da diversidade encontrada nos pacientes com anemia falciforme. AbstractSickle cell disease (SCD) is an inherent disorder caused by a single nucleotide substitution. The great variability in clinical and hematological features of SCD provides a challenge in the understanding of the pathophysiological mechanisms leading to the disease. The identification of DNA polymorphisms can contribute to understand the role of the different biomarkers and their relationships with the extremely variable clinical manifestation of SCD. In order to contribute to the identification of polymorphisms in SCD, we proposed to study the distribution of the DNA repair gene XRCC1 in SCD patients and healthy control individuals. Our results indicate that the polymorphisms of the XRCC1 variant alleles 399Gln and 194Trp were not statistically different between the groups studied. We observed a tendency for the prevalence of the Gln/Gln genotype in SCD patients. The results from ongoing investigations with other polymorphisms have been elucidating the role of such biomarkers and their relationships with the clinical manifestation of SCD. Rev. bras. hematol. hemoter. 2006 ; 29(2): 198-199.

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Identificação dos polimorfismos do gene XRCC1 em pacientes com anemia falciforme

Alves

Canalle

Martins

et al. 2007

Rev. Bras. Hematol. Hemoter.

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“…It is known, however, that the -α 3.7 deletion in heterozygosis, or homozygosis, is the most prevalent, due to the great miscegenation of the population with important African genetic contributions [ 5 , 6 , 7 ]. Studies in several Brazilian regions report variable frequencies of α + -thalassemia resulting from the -α 3.7 deletion, ranging from 0.7 to 20% [ 5 , 6 , 8 , 9 , 10 , 11 ]. After screening for the presence of microcytosis and/or hypochromia, the -α 3.7 deletion is detected in around 50% of individuals [ 12 , 13 ].…”

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Novel Decision Tool for More Severe α-Thalassemia Genotypes Screening with Functional Loss of Two or More α-Globin Genes: A Diagnostic Test Study

et al. 2022

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After the exclusion of iron deficiency and β-thalassemia, molecular research for α-thalassemia is recommended to investigate microcytic anemia. Aiming to suggest more efficiently the molecular analysis for individuals with a greater chance of having a symptomatic form of the disease, we have developed and validated a new decision tool to predict the presence of two or more deletions of α-thalassemia, increasing considerably the pre-test probability. The model was created using the variables: the percentage of HbA2, serum ferritin and mean corpuscular volume standardized by age. The model was trained in 134 patients and validated in 160 randomly selected patients from the total sample. We used Youden’s index applied to the ROC curve methodology to establish the optimal odds ratio (OR) cut-off for the presence of two or more α-globin gene deletions. Using the OR cut-off of 0.4, the model’s negative predictive value (NPV) was 96.8%; the cut-off point accuracy was 85.4%; and the molecular analysis pre-test probability increased from 25.9% to 65.4% after the use of the proposed model. This tool aims to assist the physician in deciding when to perform molecular studies for the diagnosis of α-thalassemia. The model is useful in places with few financial health resources.

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Incidence of hemoglobinopathies in Northwest Paraná, Brazil

Seixas¹,

Silva²,

Tominaga³

et al. 2008

Rev. Bras. Hematol. Hemoter.

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Immigrants from many parts of the world settled in Paraná State in Brazil, contributing to the diversified genetic patrimony of its population. This characteristic led us to investigate, for the first time, the incidence of hemoglobinopathies in the population of one city in Paraná. A total of 585 blood samples were collected from individuals living in Umuarama. Hemoglobinopathy tests were carried out using the classical methodology. The results show that 93.17% have the normal electrophoretic pattern (AA); 2.73% have the beta-thalassemia trait; 2.05% have the sickle cell trait (AS); 1.37% are heterozygous for alpha-thalassemia; 0.34% heterozygous for hemoglobin C (AC); 0.17% have both alpha-thalassemia and sickle cell traits and 0.17% are heterozygous for alpha and beta-thalassemia. A comparison of these results with other works suggests that the frequency of hemoglobinopathies can significantly vary between cities within the same state. This fact may be attributed to the miscegenation of the population or even to the diverse prevalence of hemoglobinopathies in distinct populations. Rev. bras. hematol. hemoter. 2008;30(4):287-291.

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Triagem de hemoglobinopatias e avaliação da degeneração oxidativa da hemoglobina em trabalhadores portadores do traço falciforme (HbAS), expostos a riscos ocupacionais

Cited by 7 publications

References 7 publications

Identificação dos polimorfismos do gene XRCC1 em pacientes com anemia falciforme

Identificação dos polimorfismos do gene XRCC1 em pacientes com anemia falciforme

Novel Decision Tool for More Severe α-Thalassemia Genotypes Screening with Functional Loss of Two or More α-Globin Genes: A Diagnostic Test Study

Incidence of hemoglobinopathies in Northwest Paraná, Brazil

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