Published References from the DBAR

1. Lipton JM, Federman N, Khabbaze Y, Schwartz CL, Hilliard LM, Clark JI, Vlachos A. Osteogenic Sarcoma Associated with Diamond Blackfan Anemia: A Report from the Diamond Blackfan Anemia Registry. J Pediatr Hematol/Oncol 2000; 23(1): 39-44. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11196268&dopt=Abstract

This article discusses the association of DBA with osteogenic sarcoma, a rare bone tumor that has been found in patients from the DBAR. Other cancers seen in DBA patients and their relatives are also reviewed.


2. Vlachos A, Federman N, Reyes-Haley C, Abramson J, Lipton JM. Hematopoietic Stem Cell Transplantation for Diamond Blackfan Anemia: A Report from the Diamond Blackfan Anemia Registry. Bone Marrow Transplantation 2001; 27: 381-386. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11313667&dopt=Abstract

An analysis of the outcome of hematopoietic stem cell transplantation for DBA was undertaken using the Diamond Blackfan Anemia Registry database. Of the 20 transplanted patients who met criteria for the diagnosis of DBA, 8 underwent an allogeneic HLA-matched sibling hematopoietic stem cell transplant (SCT) and 12 an alternative donor SCT. The survival for HLA-matched sibling versus alternative donor transplant was 87.5% + 11.7% versus 14.1% + 12.1% at greater than 5 years from SCT. This article reviews these outcomes in detail and discusses the risks and benefits of transplantation for DBA.


3. Gazda H, Lipton JM, Niemeyer CM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Baker D, Pospisilova D, Webber A, Viskochil DH, Nathan DG, Beggs AH, Sieff CA: Evidence for linkage of familial Diamond-Blackfan Anemia to chromosome 8p23.2-23.1 and for non-19q non-8p disease. Blood 2001; 97(7): 2145-2150. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11264183&dopt=Abstract

Blood from 12 multiplex DBAR families and others from Europe was analyzed through genetic linkage. Evidence was found that another gene for DBA exists on chromosome 8p. This locus is defined and candidate genes are being investigated.


4. Gripp KW, McDonald-McGinn DM, La Rossa D, McGain D, Federman N, Vlachos A, Glader BE, McKenzie SE, Lipton JM, Zackai EH. Bilateral Microtia and Cleft Palate in Cousins with Diamond Blackfan Anemia. Am J Med Genet 2001; 101(3): 268-274. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11424144&dopt=Abstract

This article discusses a familial case of DBA in which the cousins have cleft palate. Interestingly one cousin has DBA, requiring treatment. The other cousin and his sister have hematologic manifestations of DBA but have not been anemic or require any treatment. The mothers of the children are completely normal both physically and hematologically even though they must be “carriers” of the DBA gene. DBA patients with cleft palate may represent a distinct clinical phenotype of DBA.


5. Vlachos A, Klein GW, Lipton JM. The Diamond Blackfan Anemia Registry: A Tool for Investigating the Epidemiology and Biology of Diamond Blackfan Anemia. J Pediatr Hematol/Oncol 2001; 23(6): 377-382. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11563775&dopt=Abstract

The Diamond Blackfan Anemia Registry of North America (DBAR) is designed to study the epidemiology and biology of DBA. To date, 354 patients have been enrolled in the DBAR. Using this database, important epidemiological, 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. This article reviews the findings from the DBAR since its inception.