Metodologias laboratoriais para o diagnóstico de hemoglobinas variantes

Chinelato-Fernandes, Ana R.; Domingos, Claudia Regina Bonini

doi:10.1590/s1516-84842006000100015

Cited by 2 publications

(3 citation statements)

References 9 publications

(19 reference statements)

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“…O HPLC possui maior acurácia do que os procedimentos eletroforéticos. O sistema automatizado é de fácil manuseio e os resultados são apresentados rapidamente 23 .…”

Section: Pesquisa De Hemoglobinas Variantesunclassified

Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, Brasil

Soares

Lima

Silva

et al. 2017

Ciênc. saúde coletiva

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“…O HPLC possui maior acurácia do que os procedimentos eletroforéticos. O sistema automatizado é de fácil manuseio e os resultados são apresentados rapidamente 23 .…”

Section: Pesquisa De Hemoglobinas Variantesunclassified

Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, Brasil

Soares

Lima

Silva

et al. 2017

Ciênc. saúde coletiva

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“…We have been catalogued 1.194 Hb variants in Hemoglobin Variant Data Base (access 09/24/2014). Most of them are caused by amino acid substitutions resulting from changes in the sequences of nucleotides Bonini-Domingos, 2006). The World Health Organization (WHO) estimates that 5% of the population is in possession of some type of inherited anemia.…”

Section: Introductionmentioning

confidence: 99%

“…The introduction of molecular approach can contribute to safe and correct manner, characterizing the type of mutation responsible for the disease. Screening tests alone are not specific to any hemoglobinopathies, but together, they can help in the diagnosis and drive subsequent procedures, assisting in the understanding of the pathophysiological processes related to the genetic disorder in question (Chinelato-Fernandes and Bonini-Domingos 2006;Giovelli et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

Research Article Characterization of molecular hemoglobin c and beta thalassemia

Lagares¹,

Rabelo²,

Dias-penna³

et al. 2017

Genet. Mol. Res.

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The hemoglobinopathies are a group of hereditary alterations prevalent in many parts of the world, but significantly affect the Brazilian population for its abundant miscegenation. These alterations in structural genes that cause the formation of hemoglobin variants, and/or regulatory genes, causing thalassemias. Currently, the number of identified abnormal hemoglobin has increased due to improvement in methods of analysis, however, many routine laboratories are not prepared for the correct identification of these changes. In the present study aimed to assess the prevalence of hemoglobinopathies by classical methods and perform the molecular characterization of mutations S, C, beta thalassemia IVS-110, IVS-1, IVS-6 and CD-39 by gene amplification using the PCR technique-AE. The molecular study used specific primers that bind promptly at the position of the mutated allele in position and the normal allele, and thus can perform gene allele specific amplification. We collected 200 samples of peripheral blood of patients in clinical laboratories at PUC-Goiás from July/2012 to December 2012. We observed two patients (1%) AC one (0.5%) AS, two (1%) with IVS-6 mutation and one (0.5%) IVS-6. The codon 39 and IVS-110 were not detected in any of the investigated patients. We concluded that our molecular methodology in the characterization of hemoglobin mutations is useful and it can be used to identify hemoglobinopathies.

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Metodologias laboratoriais para o diagnóstico de hemoglobinas variantes

Cited by 2 publications

References 9 publications

Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, Brasil

Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, Brasil

Research Article Characterization of molecular hemoglobin c and beta thalassemia

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