Lipton Jeffrey M
Division of Pediatric Hematology/Oncology and Stem Cell Transplantation, Schneider Children's Hospital, Albert Einstein College of Medicine, Long Island Jewish Medical Center, New Hyde Park, NY 11040, USA.
Semin Hematol. 2006 Jul;43(3):167-77. doi: 10.1053/j.seminhematol.2006.04.002.
Diamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous disorder characterized by erythroid failure, congenital anomalies, and a predisposition to cancer. Faulty ribosome biogenesis is hypothesized to be the underlying defect, leading to erythroid failure due to accelerated apoptosis in affected erythroid progenitors/precursors. Since first observed in DBA, pro-apoptotic hematopoiesis has been recognized as a common mechanism for hematopoietic failure in virtually all of the inherited bone marrow failure syndromes. Inherited as an autosomal dominant trait, one of what appears to be multiple DBA genes, coding for ribosomal protein RPS19, has been cloned. The discovery of additional genes will no doubt clarify the molecular pathophysiology of this disorder. Even within families, individuals may vary dramatically as to the degree of anemia, treatment response, and the presence of congenital anomalies. The study of DBA has been facilitated by the creation of international patient registries that provide more reliable information regarding clinical presentation, genetics, and outcome, as well as descriptions of congenital malformations and cancer predisposition, than can be culled from the literature. Analysis of registry data has led to improvements in clinical care and provides patients and research specimens for clinical and laboratory investigations.
钻石黑范贫血（DBA）是一种在遗传和临床方面具有异质性的疾病，其特征为红系造血衰竭、先天性异常以及易患癌症。据推测，核糖体生物合成缺陷是其潜在缺陷，导致受影响的红系祖细胞/前体细胞凋亡加速，进而引发红系造血衰竭。自首次在DBA中观察到以来，促凋亡造血已被公认为几乎所有遗传性骨髓衰竭综合征中造血衰竭的常见机制。作为常染色体显性性状遗传，编码核糖体蛋白RPS19的多个DBA基因之一已被克隆。其他基因的发现无疑将阐明这种疾病的分子病理生理学。即使在家族内部，个体在贫血程度、治疗反应以及先天性异常的存在情况等方面也可能存在显著差异。国际患者登记处的建立促进了对DBA的研究，该登记处提供了比从文献中收集到的更可靠的有关临床表现、遗传学、结局以及先天性畸形和癌症易感性的信息。对登记数据的分析已带来临床护理的改善，并为临床和实验室研究提供了患者和研究标本。
