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Type: Artigo de periódico
Title: Molecular Identification Of Sicilian (deltabeta) Degrees-thalassemia Associated With Beta-thalassemia And Hemoglobin S In Brazil.
Author: de Andrade, T G
Fattori, A
Saad, S T O
Sonati, M F
Costa, F F
Abstract: We 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 -thalassemia 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.
Subject: Adult
Amino Acid Sequence
Dna Mutational Analysis
Hemoglobin, Sickle
Molecular Sequence Data
Polymerase Chain Reaction
Citation: Brazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas / Sociedade Brasileira De Biofísica ... [et Al.]. v. 35, n. 8, p. 873-6, 2002-Aug.
Rights: aberto
Date Issue: 2002
Appears in Collections:Unicamp - Artigos e Outros Documentos

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