Genetic analysis of beta-thalassemia major and beta-thalassemia intermedia in Brazil

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dc.contributor.authorFonseca, Silvana Fahel da [UNIFESP]
dc.contributor.authorKerbauy, José [UNIFESP]
dc.contributor.authorEscrivao, C.
dc.contributor.authorFigueiredo, Maria Stella [UNIFESP]
dc.contributor.authorCancado, R.
dc.contributor.authorArruda, V. R.
dc.contributor.authorSaad, Sara Teresinha Olalla [UNIFESP]
dc.contributor.authorCosta, Fernando Ferreira [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)
dc.contributor.institutionHematol Ctr Sao Paulo
dc.date.accessioned2018-06-15T17:30:26Z
dc.date.available2018-06-15T17:30:26Z
dc.date.issued1998-01-01
dc.description.abstractThe development of methodologies to identify the molecular lesions responsible for different types of beta-thalassemia has made it possible to correlate these data with clinical and hematological severity. We examined DNA from 35 patients with beta-thalassemia, residents of the State of Sao Paulo, Brazil, for some types of genetic modifying factors: beta-thalassemia mutations, the upstream XmnI (G)y-globin gene polymorphisms, and alpha-globin gene deletions. Additionally, the beta-like gene cluster haplotypes and the presence of the Y-A(T) variant were studied. The following mutations were present in the 70 chromosomes studied: 54.3% codon 39 (C-->T) (beta degrees); 18.6% IVS-I-6 (T-->C (beta(')); 18.6% IVS-I-110 (G-->A) (beta+), and 4.3% IVS-I-1 (G-->T) (beta degrees). Haplotype II was associated with the nonsense mutation at codon 39, haplotype I with the IVS-I-110 and codon 39 mutations, and haplotypes VI and VII with the IVS-I-6 mutation. The XmnI polymorphism was detected in three out of 31 patients studied. No alpha-thalassemia was detected among the thalassemia intermedia patients. The Y-A(T) variant was present in 87.1% of 31 thalassemia patients and was associated with the codon 39/haplotype II and IVS-I-6/haplotype VI mutations. This is the first study of the Brazilian population that has analyzed the beta-thalassemia mutations and of her molecular variants, and has correlated them with the clinical manifestations.en
dc.description.affiliationUniv Fed Sao Paulo, Sao Paulo, Brazil
dc.description.affiliationState Univ Campinas, UNICAMP, Hematol & Hemotherapy Ctr, Campinas, SP, Brazil
dc.description.affiliationHematol Ctr Sao Paulo, Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent197-207
dc.identifierhttp://dx.doi.org/10.3109/03630269809113134
dc.identifier.citationHemoglobin. New York: Marcel Dekker Inc, v. 22, n. 3, p. 197-207, 1998.
dc.identifier.doi10.3109/03630269809113134
dc.identifier.issn0363-0269
dc.identifier.urihttp://repositorio.unifesp.br/11600/43767
dc.identifier.wosWOS:000074148400002
dc.language.isoeng
dc.publisherMarcel Dekker Inc
dc.relation.ispartofHemoglobin
dc.rightsAcesso restrito
dc.titleGenetic analysis of beta-thalassemia major and beta-thalassemia intermedia in Brazilen
dc.typeArtigo
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