Data From the Diamond Blackfan Anemia Registry (Dbar) Suggest A Reevaluation Of Current Treatment Practices † 804

Vlachos, Adrianna; Boonyasai, Romsai T.; Abramson, Jeremy S.; Samedi, J; Reyes-Haley, C; Alter, Blanche P.; Buchanan, G. R.; Freedman, Melvin H.; Glader, Bertil; Lipton, Jeffrey M.

doi:10.1203/00006450-199804001-00825

Cited by 2 publications

(1 citation statement)

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“…3 More than 40% of patients have congenital abnormalities, particularly of the upper limb and craniofacial regions. 1,[4][5][6] Recently, linkage analysis of 29 European families showed that DBA in 26 of both dominant and recessive families mapped to chromosome 19q. 7 Identification of a patient with a translocation led to the cloning of a gene on chromosome 19q13.2 that encodes a ribosomal protein, RPS19.…”

Section: Introductionmentioning

confidence: 99%

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease

Gazda

2001

Blood

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Section: Introductionmentioning

confidence: 99%

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease

Gazda

2001

Blood

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The Diamond Blackfan Anemia Registry: Tool for Investigating the Epidemiology and Biology of Diamond—Blackfan Anemia

Vlachos

Klein

Lipton

2001

Journal of Pediatric Hematology/Oncology

100

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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.

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Data From the Diamond Blackfan Anemia Registry (Dbar) Suggest A Reevaluation Of Current Treatment Practices † 804

Cited by 2 publications

References 0 publications

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease

The Diamond Blackfan Anemia Registry: Tool for Investigating the Epidemiology and Biology of Diamond—Blackfan Anemia

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