Anemia, Blackfan Diamond / Disease

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