Diamond-Blackfan anemia

Definition:

Diamond-Blackfan anemia (DBA) is a genetically and clinically heterogeneous congenital erythroid aplasia that develops within the first year of life. Faulty ribosome biogenesis is hypothesized to be the underlying defect, leading to erythroid failure due to accelerated apoptosis in affected erythroid progenitors/precursors.

References:

[1]. Adrianna Vlachos, et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008 Sep;142(6):859-76. [Content Brief]

[2]. Fumika Ikeda, et al. Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. Haematologica. 2017 Mar;102(3):e93-e96. [Content Brief]

[3]. Hanna T Gazda, et al. Recent insights into the pathogenesis of Diamond-Blackfan anaemia. Br J Haematol. 2006 Oct;135(2):149-57. [Content Brief]

[4]. Johan Flygare, et al. Diamond-Blackfan anemia: erythropoiesis lost in translation. Blood. 2007 Apr 15;109(8):3152-4. [Content Brief]

[5]. Karen W Gripp, et al. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet A. 2014 Sep;164A(9):2240-9. [Content Brief]

[6]. Leana Doherty, et al. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. Am J Hum Genet. 2010 Feb 12;86(2):222-8. [Content Brief]

[7]. Lisa Mirabello, et al. Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. J Med Genet. 2017 Jun;54(6):417-425. [Content Brief]

[8]. Lisa Mirabello, et al. Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. Blood. 2014 Jul 3;124(1):24-32. [Content Brief]

[9]. Michael Landowski, et al. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet. 2013 Nov;132(11):1265-74. [Content Brief]

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