Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/195118
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
Brazil
Dna Mutational Analysis
Female
Hemoglobin, Sickle
Humans
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Beta-thalassemia
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/12185378
Date Issue: 2002
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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