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Adult‐onset Diamond‐Blackfan anemia with a novel mutation in the exon 5 of RPL 11: too late and too rare

2015; Wiley; Volume: 3; Issue: 6 Linguagem: Inglês

10.1002/ccr3.240

2050-0904

Elena Flores Ballester, Juan José Gil‐Fernández, Miguel Blanco, José Miguel Laffita Mesa, García Díaz, Ana T. Tamayo, Carmen Burgaleta,

Epigenetics and DNA Methylation

Key Clinical Message 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.