Diamond-Blackfan Anemia 3

Common Name(s)

Diamond-Blackfan Anemia 3

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by {4:Landowski et al., 2013}). For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 ({105650}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Diamond-Blackfan Anemia 3" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Diamond-Blackfan Anemia 3" returned 7 free, full-text research articles on human participants. First 3 results:

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

Author(s): H Gazda, J M Lipton, T N Willig, S Ball, C M Niemeyer, G Tchernia, N Mohandas, M J Daly, A Ploszynska, K A Orfali, A Vlachos, B E Glader, R Rokicka-Milewska, A Ohara, D Baker, D Pospisilova, A Webber, D H Viskochil, D G Nathan, A H Beggs, C A Sieff

Journal: Blood. 2001 Apr;97(7):2145-50.

 

Diamond-Blackfan anemia (DBA) is a rare congenital hypoplastic anemia that usually presents early in infancy and is inherited in 10% to 20% of cases. Linkage analysis has shown that DBA in many of both dominant and recessive DBA families mapped to chromosome 19q13.2 leading to the ...

Last Updated: 26 Mar 2001

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Failure of recombinant human interleukin-3 therapy to induce erythropoiesis in patients with refractory Diamond-Blackfan anemia.
 

Author(s): N F Olivieri, S A Feig, L Valentino, A M Berriman, R Shore, M H Freedman

Journal: Blood. 1994 May;83(9):2444-50.

 

In two previous studies, we observed that recombinant human interleukin-3 (IL-3) induced an increase in marrow burst-forming unit-erythroid-derived colonies in vitro in some patients with Diamond-Blackfan anemia (DBA). To determine whether a similar erythropoietic response could be ...

Last Updated: 1 Jun 1994

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Sustained response after recombinant interleukin-3 in diamond blackfan anemia.
 

Author(s): Y Bastion, P Bordigoni, M Debré, D Girault, T Leblanc, G Tchernia, S Ball, C McGuckin, E C Gordon-Smith, A Békassy

Journal: Blood. 1994 Jan;83(2):617-8.

 

Last Updated: 23 Feb 1994

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Diamond-Blackfan Anemia 3" returned 1 free, full-text review articles on human participants. First 3 results:

Erythropoiesis in Diamond-Blackfan anemia and the role of interleukin 3 and steel factor.
 

Author(s): M H Freedman

Journal: Stem Cells. 1993 Jul;11 Suppl 2():98-104.

 

Diamond-Blackfan anemia (DBA) is pleiotropic clinically and in vitro, and there is a strong suspicion that DBA is really a family of diseases that shares a common hematological phenotype. Although standard clonogenic assays of erythroid progenitors have been very informative about ...

Last Updated: 10 Nov 1993

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