The DBA Registry: A Vital Tool for the Study of DBA

描述(由申请人提供)： 钻石黑粉贫血登记处(DBAR)是罕见遗传性骨髓衰竭综合征钻石黑粉贫血(DBA)患者的全面数据库，钻石黑粉贫血(DBA)是一种以纯红细胞再生障碍性贫血、先天性异常和癌症易感性为特征的异质性遗传疾病。贫血通常出现在婴儿期或儿童早期，超过40%的患者至少有一种先天性异常。精算的癌症风险虽然增加了，但到目前为止，还没有确定。至少三个DBA基因中的一个已经被克隆。值得注意的是，具有相同基因型别的患者通常不会表现出相同的表型。事实上，同一家庭中“受影响”的个体在贫血程度、对皮质类固醇的反应、先天畸形的存在和癌症的发展方面可能有很大的不同。在开发DBAR之前，我们关于流行病学和对各种治疗方式的反应的知识完全是从文献报告中确定的。例如，只有通过从登记处获得的数据才能认识到皮质类固醇的极端毒性。此外，这种疾病的罕见也阻碍了进行有意义的生物学研究的能力。此应用程序的目标是扩展和更新DBAR，以：1)促进对钻石黑粉贫血流行病学和生物学的调查；2)提供DBA患者的准确表型，以促进基因和表型的相关性；3)为具有良好特征的患者提供治疗方案；4)使患者能够获得研究研究；5)向患者提供研究研究结果；6)作为患者及其医生的资源，指导诊断、治疗和生殖决策。

DESCRIPTION (provided by applicant): The Diamond Blackfan Anemia Registry (DBAR) is a comprehensive database of patients with the rare inherited bone marrow failure syndrome Diamond Blackfan anemia (DBA), a heterogeneous genetic disorder characterized by pure red cell aplasia, congenital anomalies and a predisposition to cancer. Anemia usually presents in infancy or early childhood and greater than 40% of patients have at least one congenital anomaly. The actuarial cancer risk although increased, is as of yet, undetermined. One of at least three DBA genes has been cloned. Of note, patients with the same genotype often do not manifest the same phenotype. Indeed, "affected" individuals within the same family may vary dramatically as to the degree of anemia, response to corticosteroids, the presence of congenital anomalies and the development of cancer. Prior to the development of the DBAR our knowledge regarding the epidemiology and response to various treatment modalities was determined exclusively from literature reports. For example the extreme toxicity of corticosteroids was only recognized through data obtained from the Registry. As well the ability to do meaningful biologic studies has been hampered by the rarity of the disorder. The objective of this application is to expand and update the DBAR in order to: 1) facilitate investigations into the epidemiology and biology of Diamond Blackfan anemia; 2) provide an accurate phenotype of DBA patients to facilitate genotype- phenotype correlations; 3) provide access of well characterized patients to treatment protocols; 4) provide patients to access to research studies; 5) provide patients with results of research studies; 6) serve as a resource to patients and their doctors to guide diagnostic, therapeutic, an reproductive decisions.