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 108 free, full-text research articles on human participants. First 3 results:

Systematic transcriptome analysis of the zebrafish model of diamond-blackfan anemia induced by RPS24 deficiency.
 

Author(s): Binfeng Song, Qian Zhang, Zhaojun Zhang, Yang Wan, Qiong Jia, Xiaomin Wang, Xiaofan Zhu, Anskar Yu-Hung Leung, Tao Cheng, Xiangdong Fang, Weiping Yuan, Haibo Jia

Journal:

 

Diamond-Blackfan anemia (DBA) is a class of human diseases linked to defective ribosome biogenesis that results in clinical phenotypes. Genetic mutations in ribosome protein (RP) genes lead to DBA phenotypes, including hematopoietic defects and physical deformities. However, little ...

Last Updated: 18 Sep 2014

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Defects of protein production in erythroid cells revealed in a zebrafish Diamond-Blackfan anemia model for mutation in RPS19.
 

Author(s): Y Zhang, J Ear, Z Yang, K Morimoto, B Zhang, S Lin

Journal:

 

Diamond-Blackfan anemia (DBA) is a rare congenital red cell aplasia that classically presents during early infancy in DBA patients. Approximately, 25% of patients carry a mutation in the ribosomal protein (RP) S19 gene; mutations in RPS24, RPS17, RPL35A, RPL11, and RPL5 have been ...

Last Updated: 25 Jul 2014

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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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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 14 free, full-text review articles on human participants. First 3 results:

Nucleolar stress in Diamond Blackfan anemia pathophysiology.
 

Author(s): Steven R Ellis

Journal: Biochim. Biophys. Acta. 2014 Jun;1842(6):765-8.

 

Diamond Blackfan anemia is a red cell hypoplasia that typically presents within the first year of life. Most cases of Diamond Blackfan anemia are caused by ribosome assembly defects linked to haploinsufficiency for structural proteins of either ribosomal subunit. Nucleolar stress ...

Last Updated: 31 Mar 2014

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Pilot, Phase I/II Study of the Amino Acid Leucine in the Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia
 

Status: Recruiting

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

 

Last Updated: 19 May 2015

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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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