title: Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare.
abstract: Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia usually diagnosed in the early infancy and associated with mutations or large deletions in 11 ribosomal protein (RP) genes. Adult patients with severe, transfusion dependence, aregenerative anemia might have a genetic-in-origin disease with an atypical presentation. Late onset nonclassical DBA should be ruled out and mutations of RP genes studied.
authors.affiliation: Department of Hematology, Hospital Universitario Príncipe de Asturias Alcalá de Henares, Madrid, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Flores Ballester
authors.affiliation: Department of Hematology, Hospital Universitario Príncipe de Asturias Alcalá de Henares, Madrid, Spain.
authors.forename: Juan José
authors.initials: JJ
authors.lastname: Gil-Fernández
authors.affiliation: Department of Ophthalmology, Hospital Universitario Príncipe de Asturias Alcalá de Henares, Madrid, Spain.
authors.forename: Miguel
authors.initials: M
authors.lastname: Vázquez Blanco
authors.affiliation: Department of Genetics, Hospital Universitario Príncipe de Asturias Alcalá de Henares, Madrid, Spain.
authors.forename: José M
authors.initials: JM
authors.lastname: Mesa
authors.affiliation: Department of Genetics, Hospital Universitario Príncipe de Asturias Alcalá de Henares, Madrid, Spain.
authors.forename: Juan
authors.initials: J
authors.lastname: de Dios García
authors.affiliation: Department of Hematology, Hospital Universitario Príncipe de Asturias Alcalá de Henares, Madrid, Spain.
authors.forename: Ana T
authors.initials: AT
authors.lastname: Tamayo
authors.affiliation: Department of Hematology, Hospital Universitario Príncipe de Asturias Alcalá de Henares, Madrid, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Burgaleta
keywords: Diamond-Blackfan anemia; RPL11 mutations; pure red cell aplasia