The Diamond Blackfan Anemia Registry: Tool for... : Journal of Pediatric Hematology/Oncology (original) (raw)
Tribute To Dr. Louis K. Diamond
The Diamond Blackfan Anemia Registry: Tool for Investigating the Epidemiology and Biology of Diamond—Blackfan Anemia
Vlachos, Adrianna M.D.; Klein, Genna W. B.A.; Lipton, Jeffrey M. M.D., Ph.D.
From the Division of Pediatric Hematology/Oncology and Stem Cell Transplantation, Schneider Children's Hospital, Albert Einstein College of Medicine at the Long Island Jewish Medical Center, New Hyde Park, New York, U.S.A.
Submitted for publication February 26, 2001; accepted April 2, 2001.
Supported by grants from the Diamond Blackfan Anemia Foundation, the Daniella Maria Arturi Foundation, and the Pediatric Cancer Foundation.
Address correspondence and reprint requests to Dr. Adrianna Vlachos, Schneider Children's Hospital, 269–01 76th Avenue, New Hyde Park, NY 11040. E-mail: [email protected].
Abstract
Diamond–Blackfan anemia (DBA) is a heterogeneous genetic disorder characterized by red cell aplasia and congenital anomalies. One of what appears to be multiple DBA genes has been cloned. Affected individuals in the same family may vary dramatically as to the degree of anemia, response to corticosteroids, and the presence of congenital anomalies. The epidemiology of DBA has been gleaned largely from literature reviews. This approach is limited because of the two-fold disadvantage of the reporting bias inherent in the literature and the lack of an active patient database. The Diamond Blackfan Anemia Registry of North America (DBAR) is designed to overcome these disadvantages to study the epidemiology and biology of DBA. The DBAR is a comprehensive database of patients with DBA who are enrolled after informed consent is obtained. Identification of patients is made through outreach to pediatric and adult hematologists and the Diamond Blackfan Anemia Foundation. The patients and/or their families complete a detailed questionnaire. A review of medical records and telephone interviews are performed to complete and clarify the information provided. To date, 354 patients have been enrolled in the DBAR. Using this database, important epidemiologic, clinical, and laboratory observations have been made with regard to the clinical presentation, the inheritance of DBA, the genetics of congenital malformations, the therapeutic outcome, including the efficacy of hematopoietic stem cell transplantation, and the recognition of DBA as a cancer predisposition syndrome. In particular, the database is an essential substrate for DBA gene discovery.
© 2001 Lippincott Williams & Wilkins, Inc.