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.

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Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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

Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia.
 

Author(s): Jingping Ge, Marisa Apicella, Jason A Mills, Loïc Garçon, Deborah L French, Mitchell J Weiss, Monica Bessler, Philip J Mason

Journal:

 

Diamond Blackfan Anemia (DBA) is an inherited bone marrow failure syndrome with clinical features of red cell aplasia and variable developmental abnormalities. Most affected patients have heterozygous loss of function mutations in ribosomal protein genes but the pathogenic mechanism ...

Last Updated: 11 Aug 2015

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Occurrence of colon tumors in a 16-year-old Japanese boy after hematopoietic stem cell transplantation for Diamond Blackfan anemia at age of 4: a case report.
 

Author(s): Ikuo Matsuda, Yasu-aki Tsuchida, Fumihiko Toyoshima, Katsuyuki Tozawa, Hisatomo Ikehara, Yoshio Ohda, Kazutoshi Hori, Yoshitoshi Ohtsuka, Jiro Watari, Hiroto Miwa, Seiichi Hirota

Journal:

 

Diamond Blackfan anemia (DBA) is a congenital pure red cell aplasia mainly caused by a mutation in ribosomal protein genes. One of the proposed mechanisms for red cell aplasia in DBA is apoptosis caused by constitutive activation of tumor suppressor TP53 protein following defective ...

Last Updated: 20 Jul 2015

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Elucidation of the EP defect in Diamond-Blackfan anemia by characterization and prospective isolation of human EPs.
 

Author(s): Deena Iskander, Bethan Psaila, Gareth Gerrard, Aristeidis Chaidos, Hui En Foong, Yvonne Harrington, Leena C Karnik, Irene Roberts, Josu de la Fuente, Anastasios Karadimitris

Journal: Blood. 2015 Apr;125(16):2553-7.

 

Diamond-Blackfan anemia (DBA) is a disorder characterized by a selective defect in erythropoiesis. Delineation of the precise defect is hampered by a lack of markers that define cells giving rise to erythroid burst- and erythroid colony-forming unit (BFU-E and CFU-E) colonies, the ...

Last Updated: 17 Apr 2015

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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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Symptoms, Diagnosis, and Treatment

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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 Nov 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: 21 Jan 2016

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