A new β0 frameshift Mutation, HBB: C.44delT (p.Leu14ArgfsX5), identified in an argentinean family associated with secondary genetic modifiers of β-thalassemia

Carolina Pepe, Silvia Eandi Eberle, Alejandro Chaves, Berenice Milanesio, Fernando M. Aguirre, Vanesa Avalos Gómez, Lilian Diaz, Adrian P. Mansini, Diego A. Fernandez, Gabriela Sciuccati, Andrea Candas, Carolina Cervio, Mariana Bonduel, Aurora Feliú-Torres

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Abstract

β-Thalassemia intermedia (β-TI) patients present with a wide spectrum of phenotypes depending on the presence of primary, secondary, and tertiary genetic modifiers which modulate, by different mechanisms, the degree of imbalance between α and β chains. Here we describe a new β0 frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in four members of a family, associated with secondary genetic modifiers in three of them. The different genotype present in this family was suspected after hematological analysis and thorough observation of blood smears highlighting their importance in the identification of β-TI patients among members of the same family.

Original languageEnglish (US)
Pages (from-to)444-446
Number of pages3
JournalHemoglobin
Volume38
Issue number6
DOIs
StatePublished - Dec 1 2014
Externally publishedYes

Keywords

  • Genetic modifiers
  • New mutation
  • β-Thalassemia intermedia (β-TI)

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    Pepe, C., Eberle, S. E., Chaves, A., Milanesio, B., Aguirre, F. M., Gómez, V. A., Diaz, L., Mansini, A. P., Fernandez, D. A., Sciuccati, G., Candas, A., Cervio, C., Bonduel, M., & Feliú-Torres, A. (2014). A new β0 frameshift Mutation, HBB: C.44delT (p.Leu14ArgfsX5), identified in an argentinean family associated with secondary genetic modifiers of β-thalassemia. Hemoglobin, 38(6), 444-446. https://doi.org/10.3109/03630269.2014.964361