Hb Florida: A novel elongated C-terminal β-globin variant causing dominant β-thalassemia phenotype
B.I. Weinstein
Hematology Department, French Hospital, Buenos Aires, Argentina
Search for more papers by this authorB. Erramouspe
Hematology Department, French Hospital, Buenos Aires, Argentina
Search for more papers by this authorD.M. Albuquerque
Hematology and Hemotherapy Center, School of Medical Sciences, State University of Campinas-UNICAMP, Campinas, State of São Paulo, Brazil
Search for more papers by this authorD.M. Oliveira
Department of Clinical Pathology, School of Medical Sciences, State University of Campinas-UNICAMP, Campinas, State of São Paulo, Brazil
Search for more papers by this authorE.M. Kimura
Department of Clinical Pathology, School of Medical Sciences, State University of Campinas-UNICAMP, Campinas, State of São Paulo, Brazil
Search for more papers by this authorF.F. Costa
Hematology and Hemotherapy Center, School of Medical Sciences, State University of Campinas-UNICAMP, Campinas, State of São Paulo, Brazil
Search for more papers by this authorCorresponding Author
M.F. Sonati
Department of Clinical Pathology, School of Medical Sciences, State University of Campinas-UNICAMP, Campinas, State of São Paulo, Brazil
Department of Clinical Pathology, School of Medical Sciences, State University of Campinas-UNICAMP, P. O. Box 6111, Campinas, São Paulo 13083-970, BrazilSearch for more papers by this authorB.I. Weinstein
Hematology Department, French Hospital, Buenos Aires, Argentina
Search for more papers by this authorB. Erramouspe
Hematology Department, French Hospital, Buenos Aires, Argentina
Search for more papers by this authorD.M. Albuquerque
Hematology and Hemotherapy Center, School of Medical Sciences, State University of Campinas-UNICAMP, Campinas, State of São Paulo, Brazil
Search for more papers by this authorD.M. Oliveira
Department of Clinical Pathology, School of Medical Sciences, State University of Campinas-UNICAMP, Campinas, State of São Paulo, Brazil
Search for more papers by this authorE.M. Kimura
Department of Clinical Pathology, School of Medical Sciences, State University of Campinas-UNICAMP, Campinas, State of São Paulo, Brazil
Search for more papers by this authorF.F. Costa
Hematology and Hemotherapy Center, School of Medical Sciences, State University of Campinas-UNICAMP, Campinas, State of São Paulo, Brazil
Search for more papers by this authorCorresponding Author
M.F. Sonati
Department of Clinical Pathology, School of Medical Sciences, State University of Campinas-UNICAMP, Campinas, State of São Paulo, Brazil
Department of Clinical Pathology, School of Medical Sciences, State University of Campinas-UNICAMP, P. O. Box 6111, Campinas, São Paulo 13083-970, BrazilSearch for more papers by this authorAbstract
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. Am. J. Hematol. 81:358–360, 2006. © 2006 Wiley-Liss, Inc.
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