2008
DOI: 10.1590/s1516-84842008000400016
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Identificação e caracterização de variantes novas e raras da hemoglobina humana

Abstract: As anormalidades estruturais da hemoglobina estão entre as doenças genéticas mais comumente encontradas nas populações humanas.

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Cited by 4 publications
(7 citation statements)
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References 17 publications
(20 reference statements)
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“…The former include Hbs D, Lepore, Korle-Bu, Osu-Christiansborg and Zürich (13,14) , and the latter Hbs Hasharon, Stanleyville-II, G-Pest, Sunshine Seth, G-Philadelphia, West One and Daneshgah-Tehran (8,9,14) . In the case of the α-chain variants, some technical characteristics can help with the diagnosis; these include the presence of four bands in electrophoresis - two corresponding to Hb A 2 (A 2 and A 2 ') and two to Hb A (A and 'X') - and a lower concentration of 'Hb X' than normally observed in individuals with β-chain variants.…”
Section: And What Are the Hb S-like Variants In The Brazilian Populatmentioning
confidence: 99%
“…The former include Hbs D, Lepore, Korle-Bu, Osu-Christiansborg and Zürich (13,14) , and the latter Hbs Hasharon, Stanleyville-II, G-Pest, Sunshine Seth, G-Philadelphia, West One and Daneshgah-Tehran (8,9,14) . In the case of the α-chain variants, some technical characteristics can help with the diagnosis; these include the presence of four bands in electrophoresis - two corresponding to Hb A 2 (A 2 and A 2 ') and two to Hb A (A and 'X') - and a lower concentration of 'Hb X' than normally observed in individuals with β-chain variants.…”
Section: And What Are the Hb S-like Variants In The Brazilian Populatmentioning
confidence: 99%
“…A expressão clínica das variantes de Hb instável é bastante variável. Em alguns casos, pode ocorrer anemia crônica grave persistente, enquanto em outros quadros pode ocorrer uma discreta hemólise, que pode ser agravada apenas se houver exposição a drogas oxidantes ou infecções (WILLIAMSON, 1993;LUKENS, 2004;KIMURA et al, 2008).…”
Section: Hemoglobinas Instáveisunclassified
“…Para triagem, em protocolos sugeridos por Naoum (1997) e Kimura et al (2008), realiza-se a eletroforese de hemoglobinas em acetato de celulose em pH alcalino e cromatografia líquida de alta performance (HPLC -high performance liquid chromatography) de troca catiônica, que permite a quantificação da fração anômala e das Hb A2 e Fetal.…”
Section: Detecção E Caracterização De Hemoglobinas Instáveisunclassified
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