Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/68610
Type: Artigo de periódico
Title: Hb Florida: A novel elongated C-terminal beta-globin variant causing dominant beta-thalassemia phenotype
Author: Weinstein, BI
Erramouspe, B
Albuquerque, DM
Oliveira, DM
Kimura, EM
Costa, FF
Sonati, MF
Abstract: We report here a new frameshift mutation in exon 3 of the P-globin gene, a single nucleotide deletion (-C) in between codons 140/141 (GCC/CTG -> GCC/TG), found in an 8-year-old Argentinean girl with clinical picture of thalassemia intermedia. It leads to a P-chain that is elongated to 156 amino acids [(141)Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-(156) Tyr-COOH]. The resulting hemoglobin, which we named Hb Florida, was not detected in peripheral blood; however, erythroid hyperplasia and dyserythropoiesis with large inclusion bodies on methyl violet staining were observed in bone marrow, suggesting that this is a hyperunstable variant producing a dominant beta-thalassemia phenotype, since the other P-allele was completely normal.
Subject: dominantly inherited beta-thalassemia
elongated beta-globin variant
Hb Florida
Country: EUA
Editor: Wiley-liss
Rights: fechado
Identifier DOI: 10.1002/ajh.20561
Date Issue: 2006
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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