Anemia, Blackfan Diamond

Important
It is possible that the main title of the report Anemia, Blackfan Diamond is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

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

Disorder Subdivisions

None

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.

Resources

Diamond Blackfan Anemia Registry - aka DBAR
Schneider Children's Hospital
269-01 76th Avenue, Rm 255
New Hyde Park, NY 11040
USA
Tel: 7184703610
Fax: 7184704321
Tel: 8888843227
Email: eatsidaf@lij.edu
Internet: http://www.dbar.org

Polinsky, Ronald. M.D.
NIH/ National Institute of Neurological Disorders and Strokes
Medical Neurology Branch
Building 10. Room 5N236
Bethesda, MD 20892
Tel: (301)496-8350

DBA.UK
71-73 Main Street
Palterton
Chesterfield, S44 6UR
United Kingdom
Tel: 01246 828194
Email: jayson.whitaker@diamondblackfan.org.uk
Internet: http://www.diamondblackfan.org.uk

NIH/National Heart, Lung and Blood Institute
31 Center Drive MSC 2480
Building 31A Rm 4A16
Bethesda, MD 20892-2480
Tel: (301)592-8573
Fax: (240)629-3246
Email: nhlbiinfo@rover.nhlbi.nih.gov
Internet: http://www.nhlbi.nih.gov/

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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 9/23/2007
Copyright 1987, 1990, 1991, 1994, 1996, 1997, 1998, 1999, 2006, 2007 National Organization for Rare Disorders, Inc.

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