Diamond-Blackfan Anemia

Findings in diamond-blackfan anemia reported from A. Cretien and co-researchers

Published in Pharma Law Weekly, December 16th, 2008

According to a study from Paris, France, " Mutations in the ribosomal protein S19 gene (RPS19) have been found in 25% of patients with Diamond-Blackfan anemia, a rare syndrome of congenital bone marrow failure characterized by erythroblastopenia and various malformations. Mechanistic understanding of the role of RPS19 in normal erythropoiesis and in the Diamond-Blackfan anemia defect is still poor."

"However, defective ribosome biogenesis and, in particular, impaired 18S ribosomal RNA maturation have been documented in association with various identified RPS19 mutations. Recently, new genes, all encoding ribosomal proteins, have been found to be mutated in...

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Source: Pharma Law Weekly (2008-12-16)

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