Diamond Blackfan Anemia

Common Name(s)

Diamond Blackfan Anemia

Diamond Blackfan anemia is a genetic blood disorder that is usually diagnosed during the first year of life. Anemia results from the failure of the bone marrow to produce red blood cells, the cells that carry oxygen throughout the body. Individuals with Diamond Blackfan anemia may also have physical abnormalities of the face head, upper limbs, hands (mostly involving the thumbs), genitalia, urinary tract, and heart. Some affected individuals also have short stature.  The cause of Diamond Blackfan anemia is often unknown. About 45% of people with Diamond Blackfan anemia inherit this condition from a parent. Treatment may involve corticosteroids, blood transfusions, a bone marrow transplant or stem cell transplantation.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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" returned 96 free, full-text research articles on human participants. First 3 results:

Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia.
 

Author(s): Anna Aspesi, Elisa Pavesi, Elisa Robotti, Rossella Crescitelli, Ilenia Boria, Federica Avondo, Hélène Moniz, Lydie Da Costa, Narla Mohandas, Paola Roncaglia, Ugo Ramenghi, Antonella Ronchi, Stefano Gustincich, Simone Merlin, Emilio Marengo, Steven R Ellis, Antonia Follenzi, Claudio Santoro, Irma Dianzani

Journal: Gene. 2014 Jul;545(2):282-9.

 

Defects in genes encoding ribosomal proteins cause Diamond Blackfan Anemia (DBA), a red cell aplasia often associated with physical abnormalities. Other bone marrow failure syndromes have been attributed to defects in ribosomal components but the link between erythropoiesis and the ...

Last Updated: 2 Jun 2014

Go To URL
Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia.
 

Author(s): Hyojin Chae, Joonhong Park, Seungok Lee, Myungshin Kim, Yonggoo Kim, Jae-Wook Lee, Nack-Gyun Chung, Bin Cho, Dae Chul Jeong, Jiyeon Kim, Jung Rok Kim, Geon Park

Journal:

 

Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by hypoproliferative anemia, associated physical malformations and a predisposition to cancer. DBA has been associated with mutations and deletions in the large and small ribosomal protein genes, ...

Last Updated: 28 Mar 2014

Go To URL
Dysferlin and other non-red cell proteins accumulate in the red cell membrane of Diamond-Blackfan Anemia patients.
 

Author(s): Esther N Pesciotta, Sira Sriswasdi, Hsin-Yao Tang, David W Speicher, Philip J Mason, Monica Bessler

Journal:

 

Diamond Blackfan Anemia (DBA) is a congenital anemia usually caused by diverse mutations in ribosomal proteins. Although the genetics of DBA are well characterized, the mechanisms that lead to macrocytic anemia remain unclear. We systematically analyzed the proteomes of red blood ...

Last Updated: 23 Jan 2014

Go To URL

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" returned 12 free, full-text review articles on human participants. First 3 results:

Progress towards mechanism-based treatment for Diamond-Blackfan anemia.
 

Author(s): Sara E Sjögren, Johan Flygare

Journal: ScientificWorldJournal. 2012 ;2012():184362.

 

Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplastic anemia, characterized by macrocytic anemia, reticulocytopenia, and severely reduced numbers of erythroid precursors in the bone marrow. For more than fifty years, glucocorticoids have remained the main option for ...

Last Updated: 23 May 2012

Go To URL
Diamond Blackfan anemia.
 

Author(s): Sarah Ball

Journal: Hematology Am Soc Hematol Educ Program. 2011 ;2011():487-91.

 

Mutations affecting genes encoding ribosomal proteins cause Diamond Blackfan anemia (DBA), a rare congenital syndrome associated with physical anomalies, short stature, red cell aplasia, and an increased risk of malignancy. p53 activation has been identified as a key component in ...

Last Updated: 14 Dec 2011

Go To URL
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome.
 

Author(s): Nicholas Burwick, Akiko Shimamura, Johnson M Liu

Journal: Semin. Hematol.. 2011 Apr;48(2):136-43.

 

A number of human disorders, dubbed ribosomopathies, are linked to impaired ribosome biogenesis or function. These include but are not limited to Diamond Blackfan anemia (DBA), Shwachman Diamond syndrome (SDS), and the 5q- myelodysplastic syndrome (MDS). This review focuses on the ...

Last Updated: 25 Mar 2011

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Therapeutic Use of the Amino Acid, Leucine in the Treatment of Transfusion - Dependent Diamond Blackfan Anemia Patients
 

Status: Recruiting

Condition Summary: Diamond Blackfan Anemia; Blackfan Diamond Syndrome; DBA; Congenital Hypoplastic Anemia; Pure Red Cell Aplasia

 

Last Updated: 27 Mar 2014

Go to URL
Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia
 

Status: Recruiting

Condition Summary: Diamond Blackfan Anemia

 

Last Updated: 27 Mar 2014

Go to URL
Stem Cell Transplant for Patients With Sickle Cell Disease (SCD), Thalassemia, Diamond Blackfan Anemia (DBA) and Other Non-malignant (Non-cancerous) Hematologic Disorders
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Thalassemia; Diamond Blackfan Anemia; Non-malignant Hematologic Disorders

 

Last Updated: 8 Sep 2014

Go to URL