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Case Reports
. 2015 Jun;3(6):392-5.
doi: 10.1002/ccr3.240. Epub 2015 Apr 9.

Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare

Elena Flores Ballester  1 , Juan José Gil-Fernández  1 , Miguel Vázquez Blanco  2 , José M Mesa  3 , Juan de Dios García  3 , Ana T Tamayo  1 , Carmen Burgaleta  1
Affiliations
Case Reports

Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare

Elena Flores Ballester et al. Clin Case Rep. 2015 Jun.

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.

Keywords: Diamond-Blackfan anemia; RPL11 mutations; pure red cell aplasia.

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Figures

Figure 1
Figure 1
Bone marrow study. Hypoplasia of erythroid lineage.
Figure 2
Figure 2
Radiologic studies. Malformations in both hands. Left hand, fusion of the phalanges of the finger with the thumb metacarpal. Right hand: Absence of the second toe.
See this image and copyright information in PMC

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