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.
 

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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

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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" returned 100 free, full-text research articles on human participants. First 3 results:

Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis.
 

Author(s): Jason E Farrar, Paola Quarello, Ross Fisher, Kelly A O'Brien, Anna Aspesi, Sara Parrella, Adrianna L Henson, Nancy E Seidel, Eva Atsidaftos, Supraja Prakash, Shahla Bari, Emanuela Garelli, Robert J Arceci, Irma Dianzani, Ugo Ramenghi, Adrianna Vlachos, Jeffrey M Lipton, David M Bodine, Steven R Ellis

Journal: Am. J. Hematol.. 2014 Oct;89(10):985-91.

 

Diamond Blackfan anemia (DBA), a syndrome primarily characterized by anemia and physical abnormalities, is one among a group of related inherited bone marrow failure syndromes (IBMFS) which share overlapping clinical features. Heterozygous mutations or single-copy deletions have been ...

Last Updated: 16 Sep 2014

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Altered translation of GATA1 in Diamond-Blackfan anemia.
 

Author(s): Leif S Ludwig, Hanna T Gazda, Jennifer C Eng, Stephen W Eichhorn, Prathapan Thiru, Roxanne Ghazvinian, Tracy I George, Jason R Gotlib, Alan H Beggs, Colin A Sieff, Harvey F Lodish, Eric S Lander, Vijay G Sankaran

Journal: Nat. Med.. 2014 Jul;20(7):748-53.

 

Ribosomal protein haploinsufficiency occurs in diverse human diseases including Diamond-Blackfan anemia (DBA), congenital asplenia and T cell leukemia. Yet, how mutations in genes encoding ubiquitously expressed proteins such as these result in cell-type- and tissue-specific defects ...

Last Updated: 8 Jul 2014

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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

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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" returned 13 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

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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

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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

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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

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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

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L-leucine in Diamond Blackfan Anemia Patients
 

Status: Recruiting

Condition Summary: Diamond Blackfan Anemia

 

Last Updated: 5 Mar 2015

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