The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation.
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.
Pediatric Hematology and Oncology Unit, Oncology Department, A.R.N.A.S. Civico, Di Cristina and Benfratelli Hospitals, Palermo;
Piero
P
Farruggia
Paola
P
Quarello
Emanuela
E
Garelli
Olivia
O
Paolicchi
Giovanni Battista
GB
Ruffo
Liana
L
Cuccia
Sonia
S
Cannella
Giuseppa
G
Bruno
Paolo
P
D'Angelo