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Anemia, Blackfan Diamond

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Synonyms of Anemia, Blackfan Diamond
  • Aase-Smith II Syndrome
  • Aase Syndrome
  • Anemia, Congenital Pure Red Cell
  • Aplasia, Congenital Pure Red Cell
  • BDA
  • Congenital Hypoplastic Anemia
  • DBA
  • Diamond-Blackfan Anemia
  • Erythrogenesis Imperfecta
  • Hypoplastic Congenital Anemia
  • Inherited Erythroblastopenia

Disorder Subdivisions



General Discussion
Blackfan-Diamond anemia (BDA) is a rare blood disorder that is caused by a failure of the bone marrow to generate enough red blood cells. It is characterized by deficiency of red blood cells at birth (congenital hypoplastic anemia) as well as slow growth, abnormal weakness and fatigue, paleness of the skin, characteristic facial abnormalities, protruding shoulder blades (scapulae), webbing or abnormal shortening of the neck due to fusion of certain bones in the spine (cervical vertebrae), hand deformities, congenital heart defects, and/or other abnormalities. The symptoms and physical findings associated with Blackfan-Diamond Anemia vary greatly from case to case.

Organizations related to Anemia, Blackfan Diamond
  • DBA-UK
    71-73 Main Street
    Palterton
    Chesterfield None S44 6UR
    Phone #: 084-5 0-94 1548
    800 #: --
    e-mail: info@diamondblackfan.org.uk
    Home page: http://www.diamondblackfan.org.uk
  • Diamond Blackfan Anemia Registry of North America (DBAR)
    Schneider Children's Hospital
    269-01 76th Avenue, Rm 255
    New Hyde Park NY 11040
    Phone #: 718-470-3610
    800 #: 888-884-3227
    e-mail: eatsidaf@lij.edu
    Home page: http://www.dbar.org
  • Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg MD 20898-8126
    Phone #: 301-251-4925
    800 #: 888-205-2311
    e-mail: ordr@od.nih.gov
    Home page: http://rarediseases.info.nih.gov/Default.aspx
  • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
    150 Custer Court
    Green Bay WI 54301-1243
    Phone #: 920-336-5333
    800 #: 877-336-5333
    e-mail: mums@netnet.net
    Home page: http://www.netnet.net/mums/
  • NIH/National Heart, Lung and Blood Institute
    31 Center Drive MSC 2480
    Building 31A Rm 4A16
    Bethesda MD 20892-2480
    Phone #: 301-592-8573
    800 #: --
    e-mail: nhlbiinfo@rover.nhlbi.nih.gov
    Home page: http://www.nhlbi.nih.gov/
  • Polinsky, Ronald. M.D.
    NIH/ National Institute of Neurological Disorders and Strokes
    Medical Neurology Branch
    Building 10. Room 5N236
    Bethesda MD 20892
    Phone #: 301-496-8350
    800 #: --
    e-mail: N/A
    Home page: N/A

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Last modified Wednesday, November 26, 2008