The spectrum of non-classical Diamond-Blackfan anemia: A case of late beginning transfusion dependency associated to a new RPL5 mutation

Abstract

Diamond Blackfan anemia typically presents in infants and is often associated with many kinds of malformations. Severity of anemia often needs transfusional support in the first months of life. We describe here a patient with Diamond Blackfan anemia related to a RPL5 mutation. The patient had no physical abnormalities and experienced a very late onset of transfusion dependency. © P. Farruggia et al., 2012.