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

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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.