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Type: Artigo de periódico
Title: Molecular identification of Sicilian (8 beta)degrees-thalassemia associated with beta-thalassemia and hemoglobin S in Brazil
Author: de Andrade, TG
Fattori, A
Saad, STO
Sonati, MF
Costa, FF
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-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.
Subject: thalassemia
sickle cell
hereditary persistence of fetal hemoglobin
globin genes
sicilian thalassemia
Country: Brasil
Editor: Assoc Bras Divulg Cientifica
Citation: Brazilian Journal Of Medical And Biological Research. Assoc Bras Divulg Cientifica, v. 35, n. 8, n. 873, n. 876, 2002.
Rights: aberto
Date Issue: 2002
Appears in Collections:Unicamp - Artigos e Outros Documentos

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