Mild clinical expression of S-beta thalassemia in a Brazilian patient with the beta(+) IVS-I-6 (T -> C) mutation

dc.creatorSonati, MD
dc.creatorKaeda, J
dc.creatorKimura, EM
dc.creatorCosta, FF
dc.creatorLuzzatto, L
dc.date1998
dc.dateDEC
dc.date2014-07-30T14:02:12Z
dc.date2015-11-26T16:44:27Z
dc.date2014-07-30T14:02:12Z
dc.date2015-11-26T16:44:27Z
dc.date.accessioned2018-03-28T23:29:48Z
dc.date.available2018-03-28T23:29:48Z
dc.identifierGenetics And Molecular Biology. Soc Brasil Genetica, v. 21, n. 4, n. 431, n. 433, 1998.
dc.identifier1415-4757
dc.identifierWOS:000078377800002
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/56973
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/56973
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1273928
dc.descriptionWe report on an eight-year-old Brazilian girl with S-beta(+) thalassemia. The patient had a steady 10.1 g/dl hemoglobin with 57% HbS. Direct sequence analysis of beta-globin gene showed her to be heterozygous for the IVS-I-6 (T-->C) mutation. This beta(+) thalassemia mutation, sometimes referred to as the Portuguese type, was found to be associated with the C-->T polymorphism at codon 2. In combination with the beta(S) gene, this mutation results in very mild sickle cell disease symptoms.
dc.description21
dc.description4
dc.description431
dc.description433
dc.languageen
dc.publisherSoc Brasil Genetica
dc.publisherRibeirao Pret
dc.publisherBrasil
dc.relationGenetics And Molecular Biology
dc.relationGenet. Mol. Biol.
dc.rightsaberto
dc.sourceWeb of Science
dc.subjectGlobin Gene
dc.subjectPortuguese
dc.subjectSite
dc.titleMild clinical expression of S-beta thalassemia in a Brazilian patient with the beta(+) IVS-I-6 (T -> C) mutation
dc.typeArtículos de revistas


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