Department of Haematology, ErasmusMC, Rotterdam, The Netherlands.
Br J Haematol. 2012 Dec;159(5):514-27. doi: 10.1111/bjh.12058. Epub 2012 Sep 27.
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.
Diamond Blackfan 贫血症（DBA）是一种罕见的先天性纯红细胞再生障碍性贫血，可能与面骨发育缺陷有关。该疾病是由至少十种核糖体蛋白之一的突变引起的，导致单倍体不足和核糖体生物发生过程中 rRNA 和核糖体蛋白的合成之间失衡。这种失衡导致肿瘤抑制基因 TP53 的稳定和激活。核糖体的丧失也导致 mRNA 翻译能力降低，并且可能比平均水平更影响特定的红系转录物的翻译。这两种机制对红细胞生成障碍的贡献正在讨论中。最有效和相对安全的治疗方法是使用糖皮质激素治疗，但患者之间的反应性不同。在 DBA 的背景下讨论了涉及的分子和细胞机制。
