Diamond Blackfan Anemia

Common Name(s)

Diamond Blackfan Anemia

Diamond Blackfan anemia (DBA) is a rare genetic blood disorder. Blood cells are made in the bone marrow, found in the center of our bones. In DBA, the bone marrow does not make enough red blood cells. Red blood cells are the cells which carry oxygen to all the different parts of our body. DBA is usually diagnosed in the first year of life.

Symptoms of DBA may include pale skin, tiring easily, rapid heartbeat and heart murmurs. In most cases there is no obvious physical sign of DBA. About 30-47% of babies with DBA are born with other birth defects which may involve the head, face and hands (especially the thumbs). Other complications may include heart, kidney, urinary tract, and genital organ defects. Many children with DBA are shorter than average and start puberty later.

DBA affects boys and girls equally and occurs in every racial and ethnic group. A mutation or change in a gene is the cause of DBA. So far, changes in 9 different genes are known to cause DBA, but the genes involved in almost 50% of DBA cases are still unknown. DBA is an autosomal dominant disorder which means one copy of the changed gene (genes come in pairs) can cause the disorder. This can be passed down from either affected parent. DBA varies greatly, so a parent who has very mild symptoms may had a child with very severe symptoms. About 55% of the time, DBA is caused by a new mutation which occurred while the sperm or egg was being made.

Diagnosis is usually confirmed by testing a small sample of the bone marrow fluid. Genetic testing can also be done. Treatment includes medication and blood transfusions to treat the anemia. Stem cell transplantation might be an option. Other birth defects are treated as needed. Research is ongoing, so talk to your child’s doctor about the most current treatment options. Genetic counselors and support groups are good sources of information and can help connect you with other families affected by DBA.

Source: Advocacy organizations associated with the condition.

 

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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 113 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 15 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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L-leucine in Diamond Blackfan Anemia Patients
 

Status: Recruiting

Condition Summary: Diamond Blackfan Anemia

 

Last Updated: 5 Mar 2015

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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: 22 Apr 2015

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