Journal
CLINICAL CASE REPORTS
Volume 3, Issue 6, Pages 392-395Publisher
WILEY
DOI: 10.1002/ccr3.240
Keywords
Diamond-Blackfan anemia; pure red cell aplasia; RPL11 mutations
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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.
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