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Type: Artigo de periódico
Title: Hb Florida: A Novel Elongated C-terminal β-globin Variant Causing Dominant β-thalassemia Phenotype
Author: Weinstein B.I.
Erramouspe B.
Albuquerque D.M.
Oliveira D.M.
Kimura E.M.
Costa F.F.
Sonati M.F.
Abstract: We report here a new frameshift mutation in exon 3 of the β-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 β-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 β-thalassemia phenotype, since the other β-allele was completely normal. © 2006 Wiley-Liss, Inc.
Rights: fechado
Identifier DOI: 10.1002/ajh.20561
Date Issue: 2006
Appears in Collections:Unicamp - Artigos e Outros Documentos

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