Diamond Blackfan Anaemia (DBA) is a rare congenital pure red cell aplasia that may be associated with facio-skeletal developmental defects. The disease is caused by mutations in one of at least ten ribosomal proteins, which results in haploinsufficiency and an imbalance between the synthesis of rRNA and ribosomal proteins during ribosome biogenesis. Such imbalance results in stabilization and activation of the tumour suppressor gene TP53. The loss of ribosomes also results in reduced mRNA translation capacity, and may affect translation of specific erythroid transcripts more than average. The contribution of these two mechanisms to impaired erythropoiesis is discussed. The most effective and relatively safe therapy is treatment with glucocorticoid hormone, but responsiveness differs between patients. The molecular and cellular mechanisms involved in treatment are discussed in the context of DBA.

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doi.org/10.1111/bjh.12058, hdl.handle.net/1765/66749
British Journal of Haematology
Department of Hematology

Horos, R., & von Lindern, M. (2012). Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia. British Journal of Haematology (Vol. 159, pp. 514–527). doi:10.1111/bjh.12058