Diamond-Blackfan anemia is a rare, pure red blood cell aplasia of childhood due to an intrinsic defect in erythropoietic progenitors. About 40% of patients display various malformations. Anemia is corrected by steroid treatment in more than 50% of cases; non-responders need chronic transfusions or stem cell transplantation. Defects in the RPS19 gene, encoding the ribosomal protein S19, are the main known cause of Diamond-Blackfan anemia and account for more than 25% of cases. Mutations in RPS24, RPS17, and RPL35A described in a minority of patients show that Diamond-Blackfan anemia is a disorder of ribosome biogenesis. Two new genes (RPL5, RPL11), encoding for ribosomal proteins of the large subunit, have been reported to be involved in a considerable percentage of patients.

Quarello, P., Garelli, E., Carando, A., Brusco, A., Calabrese, R., Dufour, C., et al. (2010). Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. HAEMATOLOGICA, 95(2), 206-213 [10.3324/haematol.2009.011783].

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

LORENI, FABRIZIO;
2010-02-01

Abstract

Diamond-Blackfan anemia is a rare, pure red blood cell aplasia of childhood due to an intrinsic defect in erythropoietic progenitors. About 40% of patients display various malformations. Anemia is corrected by steroid treatment in more than 50% of cases; non-responders need chronic transfusions or stem cell transplantation. Defects in the RPS19 gene, encoding the ribosomal protein S19, are the main known cause of Diamond-Blackfan anemia and account for more than 25% of cases. Mutations in RPS24, RPS17, and RPL35A described in a minority of patients show that Diamond-Blackfan anemia is a disorder of ribosome biogenesis. Two new genes (RPL5, RPL11), encoding for ribosomal proteins of the large subunit, have been reported to be involved in a considerable percentage of patients.
feb-2010
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore BIO/11 - BIOLOGIA MOLECOLARE
English
Con Impact Factor ISI
Genetic Testing; Cohort Studies; Ribosomal Proteins; Cell Line; Genetic Association Studies; Mutation; Phenotype; Italy; Anemia, Diamond-Blackfan; Genotype; Humans
Quarello, P., Garelli, E., Carando, A., Brusco, A., Calabrese, R., Dufour, C., et al. (2010). Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. HAEMATOLOGICA, 95(2), 206-213 [10.3324/haematol.2009.011783].
Quarello, P; Garelli, E; Carando, A; Brusco, A; Calabrese, R; Dufour, C; Longoni, D; Misuraca, A; Vinti, L; Aspesi, A; Biondini, L; Loreni, F; Dianzani, I; Ramenghi, U
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/9846
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