Molecular identification of Sicilian (8 beta)degrees-thalassemia associated with beta-thalassemia and hemoglobin S in Brazil

dc.creatorde Andrade, TG
dc.creatorFattori, A
dc.creatorSaad, STO
dc.creatorSonati, MF
dc.creatorCosta, FF
dc.date2002
dc.dateAUG
dc.date2014-11-17T01:29:44Z
dc.date2015-11-26T16:34:41Z
dc.date2014-11-17T01:29:44Z
dc.date2015-11-26T16:34:41Z
dc.date.accessioned2018-03-28T23:16:58Z
dc.date.available2018-03-28T23:16:58Z
dc.identifierBrazilian Journal Of Medical And Biological Research. Assoc Bras Divulg Cientifica, v. 35, n. 8, n. 873, n. 876, 2002.
dc.identifier0100-879X
dc.identifierWOS:000179079400003
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/57783
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/57783
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/57783
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1271270
dc.descriptionWe describe the clinical and molecular characteristics of two unrelated Brazilian families with an association of the Sicilian form of (deltabeta)degrees-thalassemia with hemoglobin S and beta-thalassemia. Direct sequencing of the beta-globin gene showed only the hemoglobin S mutation in patient 1 and the beta-thalassemia IVS1-110 in patient 2. The other allele was deleted in both patients and PCR of DNA samples of the breakpoint region of both patients showed a band of approximately 1,150 bp, expected to be observed in the DNA of carriers of Sicilian (deltabeta)degrees-thalassemia. The nucleotide sequence of this fragment confirmed the Sicilian deletion. There are few reports concerning the Hb S/(deltabeta)degrees-thalassemi a association and patient 2 is the first reported case of Sicilian type of (deltabeta)degrees-thalassemia in association with beta-thalassemia documented at the molecular level.
dc.description35
dc.description8
dc.description873
dc.description876
dc.languageen
dc.publisherAssoc Bras Divulg Cientifica
dc.publisherSao Paulo
dc.publisherBrasil
dc.relationBrazilian Journal Of Medical And Biological Research
dc.relationBrazilian J. Med. Biol. Res.
dc.rightsaberto
dc.sourceWeb of Science
dc.subjectthalassemia
dc.subjectsickle cell
dc.subjecthereditary persistence of fetal hemoglobin
dc.subjectglobin genes
dc.subjectsicilian thalassemia
dc.subjectFetal Hemoglobin
dc.subjectDeletions
dc.titleMolecular identification of Sicilian (8 beta)degrees-thalassemia associated with beta-thalassemia and hemoglobin S in Brazil
dc.typeArtículos de revistas


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