Article
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature.
Haematologica - 1 Apr 2004
Campagnoli Maria Francesca, Garelli Emanuela, Quarello Paola, Carando Adriana, Varotto Stefania, Nobili Bruno, Longoni Daniela, Pecile Vanna, Zecca Marco, Dufour Carlo, Ramenghi Ugo, Dianzan Irma
Abstract excerpt
BACKGROUND AND OBJECTIVES: Diamond-Blackfan anemia (DBA) is a rare, pure red blood cell aplasia of childhood caused by an intrinsic defect in erythropoietic progenitors. Malformations occur in about 40% of patients. More than half of patients respond to steroids; non-responders need chronic transfusions or stem cell transplantation (SCT). Mutations in the gene encoding ribosomal protein S19 are found in 25% of...
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