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Diamond-Blackfan Anemia (Anemia, Diamond Blackfan)

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A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)

Also Known As:

Anemia, Diamond Blackfan; Anemia, Diamond-Blackfan; Anemia, Diamond-Blackfan Type; Blackfan-Diamond Syndrome; Anemia, Diamond Blackfan Type; Blackfan Diamond Syndrome; Diamond Blackfan Anemia; Diamond-Blackfan Type Anemia

Networked: 146 relevant articles (5 outcomes, 8 trials/studies) for this Disease, Comments

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Thalassemia
2.	Ectodermal Dysplasia (Aplasia Cutis Congenita)
3.	Anemia
4.	Fanconi Anemia (Fanconi's Anemia)
5.	Dyskeratosis Congenita (X-Linked Dyskeratosis Congenita)

Experts

1.	Gleizes, Pierre-Emmanuel: 8 articles (02/2010 - 11/2005)
2.	Dahl, Niklas: 8 articles (01/2010 - 10/2002)
3.	Tchernia, Gil: 7 articles (01/2009 - 01/2003)
4.	Da Costa, Lydie: 7 articles (01/2009 - 01/2003)
5.	Karlsson, Stefan: 7 articles (11/2008 - 10/2002)
6.	Sieff, Colin A: 6 articles (02/2010 - 06/2005)
7.	Dianzani, Irma: 6 articles (02/2010 - 12/2004)
8.	Richter, Johan: 6 articles (11/2008 - 10/2002)
9.	Flygare, Johan: 6 articles (11/2008 - 05/2003)
10.	Gazda, Hanna T: 5 articles (02/2010 - 09/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Diamond-Blackfan Anemia:

1.	Methylprednisolone FDA LinkGeneric 10/01/1995 - "STUDY DESIGNS: We prospectively treated eight patients with transfusion-dependent Diamond-Blackfan anemia with high intravenous doses of methylprednisolone. " 08/01/2001 - "CONCLUSION: None of nine children with refractory Diamond-Blackfan anemia treated with oral megadose methylprednisolone exhibited a clinically significant response. " 08/01/2001 - "PURPOSE: Several reports describe children with refractory transfusion-dependent Diamond-Blackfan anemia who responded to extremely large doses of methylprednisolone. " 08/01/2001 - "Oral megadose methylprednisolone therapy for refractory Diamond-Blackfan anemia. " 11/01/1994 - "Oral megadose methylprednisolone for Diamond-Blackfan anemia." Order ALL the reference details at left...
2.	Prednisone (Sone)FDA LinkGeneric 10/01/1995 - "CONCLUSIONS: We conclude that very high doses of methylprednisolone may induce sustained remission in some patients with transfusion-dependent Diamond-Blackfan anemia refractory to standard-dose prednisone therapy." 03/01/2000 - "A girl with Diamond-Blackfan anemia diagnosed in infancy started cyclosporine A (CSA) therapy at 9 years and 8 months of age after experiencing unacceptable side effects while receiving prednisone. " 10/01/1995 - "High-dose intravenous methylprednisolone therapy for patients with Diamond-Blackfan anemia refractory to conventional doses of prednisone." 08/01/2001 - "PATIENTS AND METHODS: This prospective treatment protocol was designed to test the efficacy and toxicity of oral megadose methylprednisolone in children with Diamond-Blackfan anemia who had previously failed to respond to standard doses of prednisone and who were dependent on regular packed red blood cell transfusions. " 10/01/1995 - "OBJECTIVES: To assess the efficacy and toxicity of very high doses of glucocorticoids in patients with congenital pure red cell aplasia (Diamond-Blackfan anemia) who did not respond to standard doses of prednisone. " Order ALL the reference details at left...
3.	Valproic Acid (Valproate, Semisodium)FDA LinkGeneric 06/01/2006 - "Diamond-Blackfan anemia in remission for 2 years on valproic acid." 11/15/2004 - "Diamond-Blackfan anemia responding to valproic acid." Order ALL the reference details at left...
4.	Messenger RNA (mRNA)IBA 09/01/1995 - "In contrast, marrow fibroblasts from a Diamond-Blackfan anemia patient in untreated hematologic remission constitutively expressed high levels of SCF mRNA (21 +/- 4 copies/cell) and soluble protein (0.40 ng/mL per 10(6) cells at 24 hours). " 12/01/2004 - "Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia." Order ALL the reference details at left...
5.	Prostaglandins D (PGD)IBA 01/01/2005 - "Successful therapy with HLA-matched stem cells, obtained from these PGD children, has been achieved already for Diamond-Blackfan anemia hypohidrotic ectodermal dysplasia with immune deficiency and thalassemia." 01/01/2005 - "Present experience of preimplantation HLA typing includes preimplantation HLA typing in 180 cycles, 122 of which were done as part of PGD for Fanconi anemia, thalassemia, Wiscott-Aldrich syndrome, hyper-immunoglobulin M syndrome, hypohidrotic ectodermal dysplasia with immune deficiency, and X-linked adrenoleukodystrophy, and 58 for the sole purpose of HLA typing for leukemias and for aplastic and Diamond-Blackfan anemia. " Order ALL the reference details at left...
6.	Cyclosporine (Ciclosporin)FDA LinkGeneric 11/01/2003 - "Sustained cyclosporine-induced erythropoietic response in identical male twins with diamond-blackfan anemia." 03/01/2000 - "Diamond-blackfan anemia and cyclosporine therapy revisited." 04/01/1993 - "Cyclosporin A for Diamond-Blackfan anemia: a new case." 03/01/1992 - "Cyclosporin A treatment for Diamond-Blackfan anemia." 11/01/2003 - "After failing a trial of corticosteroid therapy, molecularly proven identical twins were treated for transfusion-dependent Diamond-Blackfan anemia with cyclosporine A, resulting in a robust erythropoietic response and a reversal of anemia. " Order ALL the reference details at left...
7.	ribosomal protein S19IBA 02/01/2010 - "Defects in the RPS19 gene, encoding the ribosomal protein S19, are the main known cause of Diamond-Blackfan anemia and account for more than 25% of cases. " 01/01/2010 - "Diamond-Blackfan anemia is a bone marrow failure syndrome associated with heterozygous mutations in the ribosomal protein S19 (RPS19) gene in a subgroup of patients. " 10/01/2009 - "Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia." 06/18/2009 - "Ribosomal protein S19 (RPS19) is mutated in patients with Diamond-Blackfan anemia (DBA). " 01/01/2009 - "BACKGROUND: The Ribosomal protein S19 gene locus (RPS19) has been linked to two kinds of red cell aplasia, Diamond-Blackfan Anemia (DBA) and Transient Erythroblastopenia in Childhood (TEC). " Order ALL the reference details at left...
8.	DiamondIBA 01/01/2010 - "The purpose of this study was to determine whether yeast models for Diamond-Blackfan anemia and Shwachman-Diamond syndrome differed in the mechanism by which ribosome synthesis was affected. " 01/01/2010 - "Conclusions These differences between the yeast Diamond-Blackfan anemia and Shwachman-Diamond syndrome models have implications for signaling mechanisms linking abortive ribosome assembly to cell fate decisions and may contribute to the divergent clinical presentations of Diamond-Blackfan anemia and Shwachman-Diamond syndrome." 01/01/2010 - "BACKGROUND: Diamond-Blackfan anemia and Shwachman-Diamond syndrome are inherited bone marrow failure syndromes linked to defects in ribosome synthesis. " 01/01/2010 - "Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome." 03/01/2008 - "We reviewed the recent progress of molecular mechanisms in bone marrow failure syndromes, such as Shwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), and dyskeratosis congenita (DC), which are all predicted to involve defective ribosome synthesis. " Order ALL the reference details at left...
9.	Interleukin-3 (Interleukin 3)IBA 05/01/1994 - "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). " 05/01/1994 - "Failure of recombinant human interleukin-3 therapy to induce erythropoiesis in patients with refractory Diamond-Blackfan anemia." 01/15/1994 - "Sustained response after recombinant interleukin-3 in diamond blackfan anemia." 08/01/1993 - "This report describes the response of eighteen Diamond-Blackfan anemia (DBA) patients to recombinant human interleukin-3 (rhIL-3). " 08/01/1993 - "Treatment of Diamond-Blackfan anemia with recombinant human interleukin-3." Order ALL the reference details at left...
10.	Adrenal Cortex Hormones (Corticosteroids)IBA 05/01/1993 - "Lack of effect of corticosteroids in W/Wv and S1/S1d mice: these strains are not a model for steroid-responsive Diamond-Blackfan anemia." 08/01/2005 - "Patients with Diamond-Blackfan anemia (DBA) who are unresponsive to or intolerant of corticosteroids, experience treatment failure with other treatments, develop additional cytopenias or clonal disease, or opt for curative therapy are often treated with allogeneic bone marrow transplantation. " 06/01/2002 - "The authors describe three infants with Diamond-Blackfan anemia receiving corticosteroids who were diagnosed with Pneumocystis carinii pneumonia. " 06/01/2002 - "Pneumocystis carinii pneumonia in patients with Diamond-Blackfan anemia receiving high-dose corticosteroids." 10/01/2002 - "Study of 22 Egyptian patients with Diamond-Blackfan anemia, corticosteroids, and cyclosporin therapy results." Order ALL the reference details at left...

Therapies and Procedures

1.	Transplantation (Transplant Recipients) 11/01/2008 - "Gene therapy of Diamond Blackfan anemia CD34(+) cells leads to improved erythroid development and engraftment following transplantation." 04/01/2001 - "The authors previously reported successful hematopoietic reconstitution following cord blood transplantation from an HLA-matched sibling in a transfusion-dependent child with Diamond-Blackfan anemia. " 04/01/2001 - "Successful immunization following cord blood transplantation in a child with Diamond-Blackfan anemia." 01/01/1997 - "This is the first case of successful umbilical cord blood transplantation to a patient with Diamond-Blackfan anemia." 01/01/1997 - "A 4-year-old boy with Diamond-Blackfan anemia and a history of multiple transfusions underwent umbilical cord blood transplantation from his HLA-identical female sibling born by vaginal delivery at 38 weeks. " Order ALL the reference details at left...
2.	Stem Cell Transplantation 03/01/2000 - "A trial of CSA therapy should be considered in patients with Diamond-Blackfan anemia in whom steroid therapy has failed before a transfusion program is instituted or alternative donor stem cell transplantation is entertained." 05/05/2004 - "DESIGN, SETTING, AND PARTICIPANTS: HLA matching procedures conducted at a single site during 2002-2003 in an in vitro fertilization program for 9 couples with children affected by acute lymphoid leukemia, acute myeloid leukemia, or Diamond-Blackfan anemia requiring HLA-matched stem cell transplantation. " Order ALL the reference details at left...
3.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/01/2010 - "A 21-year-old man who was diagnosed with Diamond-Blackfan anemia at 2 years of age came to our hospital with the hope of undergoing bone marrow transplantation (BMT). " 08/01/2005 - "Bone marrow transplantation for diamond-blackfan anemia." 08/01/2004 - "Successful nonmyeloablative bone marrow transplantation in a corticosteroid-resistant infant with Diamond-Blackfan anemia." 03/01/1997 - "Bone marrow transplantation has been successfully employed in the treatment of Diamond-Blackfan anemia (DBA). " 01/01/1995 - "Bone marrow transplantation for Diamond-Blackfan anemia." Order ALL the reference details at left...
4.	Transplants (Transplant) 01/01/2000 - "A 7-year-old boy with Diamond-Blackfan anemia (DBA) developed lymphoproliferative disease (LPD) after a cord blood transplant (CBT). " 01/01/2000 - "Epstein-Barr virus-associated lymphoproliferative disease after a cord blood transplant for Diamond-Blackfan anemia." 05/01/1998 - "Bone marrow transplant in Diamond-Blackfan anemia." 08/01/1984 - "Complete recovery of hemopoiesis following bone marrow transplant in a patient with unresponsive congenital hypoplastic anemia (Blackfan-Diamond syndrome)." Order ALL the reference details at left...
5.	Hematopoietic Stem Cell Transplantation 09/01/2007 - "Transfusion-dependent Diamond-Blackfan anemia (DBA) patients opt for allogeneic hematopoietic stem cell transplantation (HSCT) as curative therapy. " 02/01/2001 - "Hematopoietic stem cell transplantation for Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry." 09/01/2007 - "Hematopoietic stem cell transplantation for Diamond-Blackfan anemia: a report from the Aplastic Anemia Committee of the Japanese Society of Pediatric Hematology." 01/01/2004 - "Diamond-Blackfan anemia in Japan: clinical outcomes of prednisolone therapy and hematopoietic stem cell transplantation." Order ALL the reference details at left...

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