title: A new β(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in an Argentinean family associated with secondary genetic modifiers of β-thalassemia.
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 β(0) 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.
authors.affiliation: Servicio de Hematología-Oncología, Hospital de Pediatría "Prof. Dr. Juan P. Garrahan" , Buenos Aires , Argentina.
authors.forename: Carolina
authors.initials: C
authors.lastname: Pepe
authors.forename: Silvia Eandi
authors.initials: SE
authors.lastname: Eberle
authors.forename: Alejandro
authors.initials: A
authors.lastname: Chaves
authors.forename: Berenice
authors.initials: B
authors.lastname: Milanesio
authors.forename: Fernando M
authors.initials: FM
authors.lastname: Aguirre
authors.forename: Vanesa Avalos
authors.initials: VA
authors.lastname: Gómez
authors.forename: Lilian
authors.initials: L
authors.lastname: Diaz
authors.forename: Adrian P
authors.initials: AP
authors.lastname: Mansini
authors.forename: Diego A
authors.initials: DA
authors.lastname: Fernandez
authors.forename: Gabriela
authors.initials: G
authors.lastname: Sciuccati
authors.forename: Andrea
authors.initials: A
authors.lastname: Candas
authors.forename: Carolina
authors.initials: C
authors.lastname: Cervio
authors.forename: Mariana
authors.initials: M
authors.lastname: Bonduel
authors.forename: Aurora
authors.initials: A
authors.lastname: Feliú-Torres
mesh_terms: D000328:Adult; D001118:Argentina; D005190:Family; D005260:Female; D016368:Frameshift Mutation; D060045:Genes, Modifier; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055544:beta-Globins
keywords: genetic modifiers; new mutation; β-Thalassemia intermedia (β-TI)