Diseases & Conditions


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Anemia, Blackfan Diamond


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
      Chesterfield None S44 6UR
      Phone #: 012-46 -828194
      800 #: --
      e-mail: jayson.whitaker@diamondblackfan.org.uk
      Home page: http://www.diamondblackfan.org.uk
    • Diamond Blackfan Anemia Registry - aka DBAR
      Schneider Children's Hospital
      New Hyde Park NY 11040
      Phone #: 718-470-3610
      800 #: 888-884-3227
      e-mail: eatsidaf@lij.edu
      Home page: http://www.dbar.org
    • 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
      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
      Bethesda MD 20892
      Phone #: 301-496-8350
      800 #: --
      e-mail: N/A
      Home page: N/A



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html