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Diamond-Blackfan anemia
Other Names for this Disease
- Anemia congenital erythroid hypoplastic
- Anemia Diamond Blackfan type
- Aregenerative anemia chronic congenital
- BDS
- Blackfan Diamond syndrome
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Overview
Diamond Blackfan anemia is a genetic blood disorder that is usually diagnosed during the first year of life.[1] 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.[2] The cause of Diamond Blackfan anemia is often unknown. About 45% of people with Diamond Blackfan anemia inherit this condition from a parent. [3] Treatment may involve corticosteroids, blood transfusions, a bone marrow transplant or stem cell transplantation.[1]
References
- Diamond Blackfan Anemia. Centers for Disease Control and Prevention (CDC). http://www.cdc.gov/ncbddd/dba/facts.html. Accessed February 1, 2011.
- Diamond Blackfan Anemia: The Disease. Diamond Blackfan Anemia Foundation, Inc.. http://www.dbafoundation.org/about.php. Accessed February 1, 2011.
- Clinton, C, Gazda, HT . Diamond Blackfan Anemia. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK7047/. Accessed February 1, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Diamond-Blackfan anemia have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- The Children's Hospital Boston provides an information page on Diamond Blackfan Anemia. Click on the link above to access this information.
- You can obtain comprehensive information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States. Click on the link to read information on this condition.
- Genetics Home Reference (GHR) contains information on Diamond-Blackfan anemia. Click on the link to go to GHR and review the information.
- The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Diamond-Blackfan anemia. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Diamond-Blackfan anemia. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Congenital anomalies, mode of inheritance, cancer predisposition, and pregnancy in DBA are reviewed in this journal article entitled, Diamond Blackfan anaemia: diagnostics and treatment recommendations from an international clinical consensus conference . The recommendations regarding the diagnosis and management described in this report are the result of deliberations and discussions at an international consensus conference.