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Hb Florida: a novel elongated C-terminal beta-globin variant causing dominant beta-thalassemia phenotype.

Weinstein BI, Erramouspe B, Albuquerque DM, Oliveira DM, Kimura EM, Costa FF, Sonati MF

Hematology Department, French Hospital, Buenos Aires, Argentina.

We report here a new frameshift mutation in exon 3 of the beta-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 beta-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 beta-allele was completely normal.

Published 26 April 2006 in Am J Hematol, 81(5): 358-60.
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