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|Type:||Artigo de periódico|
|Title:||Hb Florida: A novel elongated C-terminal beta-globin variant causing dominant beta-thalassemia phenotype|
|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
|Appears in Collections:||Artigos e Materiais de Revistas Científicas - Unicamp|
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