Diamond-Blackfan Anemia (Anemia, Diamond Blackfan)

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:

Networked: 260 relevant articles (7 outcomes, 12 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Macrocytic Anemia
2.	Thalassemia
3.	Fanconi Anemia (Fanconi's Anemia)
4.	Dyskeratosis Congenita (X-Linked Dyskeratosis Congenita)
5.	Anemia

Experts

1.	Ellis, Steven R: 13 articles (03/2015 - 01/2006)
2.	Gleizes, Pierre-Emmanuel: 12 articles (04/2013 - 11/2005)
3.	Dianzani, Irma: 11 articles (10/2014 - 12/2004)
4.	Gazda, Hanna T: 11 articles (07/2014 - 09/2006)
5.	Dahl, Niklas: 11 articles (01/2011 - 01/2002)
6.	Alter, Blanche P: 10 articles (10/2015 - 01/2007)
7.	Karlsson, Stefan: 10 articles (12/2014 - 10/2002)
8.	Ramenghi, Ugo: 10 articles (10/2014 - 12/2004)
9.	Da Costa, Lydie: 10 articles (07/2014 - 01/2003)
10.	Flygare, Johan: 9 articles (12/2014 - 05/2003)

Drugs and Biologics

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

1.	MethylprednisoloneFDA LinkGeneric 08/01/2001 - "None of nine children with refractory Diamond-Blackfan anemia treated with oral megadose methylprednisolone exhibited a clinically significant response. " 08/01/2001 - "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. " 10/01/1995 - "We prospectively treated eight patients with transfusion-dependent Diamond-Blackfan anemia with high intravenous doses of methylprednisolone. " 11/01/1994 - "Oral megadose methylprednisolone for Diamond-Blackfan anemia."
2.	Transient erythroblastopenia of childhoodIBA 12/01/1990 - "The case is discussed in the context of a diagnostic differentiation between transient erythroblastopenia of childhood (TEC) and Diamond-Blackfan Anemia (DBA); since it does not clearly fit either category it could either be an unusual TEC presentation with extended macrocytic anemia dependent on steroid therapy for remission, or a late onset DBA with potential for eventual relapse." 09/01/1987 - "The vast majority of pediatric RBC hypoplastic anemias are accounted for by red blood cell aplasia associated with chronic hemolysis, Diamond-Blackfan anemia, and transient erythroblastopenia of childhood. " 02/01/1995 - "The current state of knowledge concerning parvovirus enabled us to divide the long list of diseases caused by this virus into three main categories: (1) disease found among normal hosts (asymptomatic disease, erythema infectiosum, arthropathy, hydrops fetalis), (2) hematologic diseases (aplastic crisis, chronic anemia, idiopathic thrombocytopenic purpura, transient erythroblastopenia of childhood, Diamond-Blackfan anemia) and, finally, (3) a heterogeneous group of diseases, in which the etiologic role of parvovirus is less clear and sometimes putative (neurologic disease, rheumatologic disease, vasculitic and myocarditic syndromes). " 12/15/1992 - "We examined its effect in vitro on bone marrow and blood progenitors from patients with inherited bone marrow failure syndromes, including 17 patients each with Diamond-Blackfan anemia (DBA) and Fanconi's anemia (FA), 3 with dyskeratosis congenita (DC), and 1 each with amegakaryocytic thrombocytopenia (amega) and transient erythroblastopenia of childhood (TEC). "
3.	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). " 06/15/2010 - "Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia." 12/01/2004 - "Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia."
4.	Prostaglandins D (PGD)IBA 01/01/2014 - "Requests included PGD-HLA for β-thalassemia (β-thal)/sickle cell disease (most common request), Diamond-Blackfan anemia (DBA), chronic granulomatous disease (CGD) and preimplantation-HLA typing only. " 08/01/2010 - "In severe forms of Diamond-Blackfan anemia, preimplantation genetic diagnosis (PGD) of histocompatibility leukocyte antigen-compatible embryos for enabling the next sibling in the family to be a stem-cell transplantation donor constitutes the sole lasting cure capable of terminating the enduring need for iterative transfusions. " 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. "
5.	Prednisone (Sone)FDA LinkGeneric 10/01/1995 - "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 - "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 - "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. "
6.	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."
7.	hypohidrotic Ectodermal dysplasia with immune deficiencyIBA 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. "
8.	Ribosomal Proteins (Ribosomal Protein)IBA 12/01/2014 - "Our study provides a proof of principle for the development of clinical gene therapy to cure ribosomal protein 19-deficient Diamond-Blackfan anemia. " 12/01/2014 - "In the present study we have validated the therapeutic potential of gene therapy using mouse models of ribosomal protein S19-deficient Diamond-Blackfan anemia. " 12/01/2012 - "This study was aimed to explore the mutations of ribosomal protein (RP) genes in patients with Diamond Blackfan anemia (DBA). " 11/01/2015 - "Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplasia caused by haploinsufficiency of genes encoding ribosomal proteins (RPs). " 06/01/2015 - "Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia usually diagnosed in the early infancy and associated with mutations or large deletions in 11 ribosomal protein (RP) genes. "
9.	Shwachman syndromeIBA 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 - "Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome." 01/01/2015 - "However, Fanconi anemia, Diamond-Blackfan anemia and Shwachman-Diamond syndrome clustered in the bottom half of the normal range. " 01/01/2012 - "These include congenital anemias such as Diamond Blackfan anemia and Shwachman Diamond syndrome; both of which are associated with mutations in various ribosomal genes. "
10.	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. "

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. "
2.	Hematopoietic Stem Cell Transplantation 01/01/2011 - "Our patient's Diamond-Blackfan anemia was cured by allogeneic hematopoietic stem cell transplantation. " 01/01/2011 - "Allogeneic hematopoietic stem cell transplantation is a well-established therapy for Diamond-Blackfan anemia. " 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." 01/01/2015 - "Occurrence of colon tumors in a 16-year-old Japanese boy after hematopoietic stem cell transplantation for Diamond Blackfan anemia at age of 4: a case report."
3.	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." 02/10/2015 - "The study included 330 patients (235 acquired, 85 Fanconi anemia, and 10 Diamond-Blackfan anemia) and their unrelated donors who had pre-HCT blood samples and clinical and outcome data available at the Center for International Blood and Marrow Transplant Research. " 09/01/2015 - "Successful use of reduced-intensity conditioning and matched-unrelated hematopoietic stem cell transplant in a child with Diamond-Blackfan anemia and cirrhosis."
4.	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 - "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. " 08/01/2010 - "In severe forms of Diamond-Blackfan anemia, preimplantation genetic diagnosis (PGD) of histocompatibility leukocyte antigen-compatible embryos for enabling the next sibling in the family to be a stem-cell transplantation donor constitutes the sole lasting cure capable of terminating the enduring need for iterative transfusions. "
5.	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."