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

[Clinical features and pathogenic gene detection of Diamond-Blackfan anemia].
 

Author(s): Xu He, Zhi-Liang Xu

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2017 Feb;19(2):171-175.

 

To investigate the clinical features of Diamond-Blackfan anemia (DBA) and related pathogenic genes.

Last Updated: 16 Feb 2017

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The Stomatological Complications of Diamond-Blackfan Anemia: A Case Report.
 

Author(s): Rita Fabiane Teixeira Gomes, Maria Cristina Munerato

Journal: Clin Med Res. 2016 Jun;14(2):97-102.

 

Diamond-Blackfan Anemia (DBA) is a rare heterogeneous genetic disease characterized by severe anemia, reduction or absence of erythroid progenitors, and pro-apoptoptic hematopoiesis, which culminates in bone marrow failure. The disease generally manifests in infancy, as craniofacial, ...

Last Updated: 12 Jul 2016

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Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR).
 

Author(s): Amit Lahoti, Yael T Harris, Phyllis W Speiser, Evangelia Atsidaftos, Jeffrey M Lipton, Adrianna Vlachos

Journal: Pediatr Blood Cancer. 2016 Feb;63(2):306-12.

 

Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome. The mainstays of treatment involve chronic red cell transfusions, long-term glucocorticoid therapy, and stem cell transplantation. Systematic data concerning endocrine function in DBA are limited. We studied ...

Last Updated: 15 Jan 2016

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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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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

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

Status: Recruiting

Condition Summary: Diamond Blackfan Anemia

 

Last Updated: 20 Dec 2016

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Diamond Blackfan Anemia Registry (DBAR)
 

Status: Recruiting

Condition Summary: Anemia; Blood Disease

 

Last Updated: 20 Dec 2016

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Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias
 

Status: Recruiting

Condition Summary: Congenital Hemolytic Anemia; Diamond-Blackfan Anemia

 

Last Updated: 18 Jul 2017

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