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

Autor(es)

Weinstein, B. I. ; Erramouspe, B. ; Albuquerque, D. M. ; Oliveira, D. M. ; Kimura, E. M. ; Costa, F. F. ^[6] ; Sonati, M. F.

• Tipo de documento: Artigo Científico
• Fonte: American Journal of Hematology; v. 81, n. 5, p. 358-360, May 2006.
• Área do conhecimento: Ciências da Saúde - Medicina
• Assunto(s): Doenças hematológicas Hemoglobinas anormais Talassemia beta Globinas beta

Resumo

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 -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 -allele was completely normal. (AU)

• Processo FAPESP: 02/13801-7 - Alterações hereditárias das hemoglobinas: genética molecular, aspectos da evolução clínica e produção de animais transgênicos
• Beneficiário: Fernando Ferreira Costa
• Modalidade de apoio: Auxílio à Pesquisa - Temático