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

doi:10.3109/03630269.2014.964361

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

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

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 language	English (US)
Pages (from-to)	444-446
Number of pages	3
Journal	Hemoglobin
Volume	38
Issue number	6
DOIs	https://doi.org/10.3109/03630269.2014.964361
State	Published - Dec 1 2014
Externally published	Yes

Bibliographical note

Publisher Copyright:
© 2014 Informa Healthcare USA, Inc. All rights reserved.

Keywords

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

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10.3109/03630269.2014.964361

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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

Pepe, C, Eberle, SE, Chaves, A, Milanesio, B, Aguirre, FM, Gómez, VA, Diaz, L, Mansini, AP, Fernandez, DA, 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, vol. 38, no. 6, pp. 444-446. https://doi.org/10.3109/03630269.2014.964361

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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.",

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AU - Eberle, Silvia Eandi

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