Anemia, Blackfan Diamond

National Organization for Rare Disorders, Inc.

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 of North America (DBAR)
Schneider Children's Hospital
269-01 76th Avenue, Rm 255
New Hyde Park, NY 11040
USA
Tel: (718)470-3610
Fax: (718)470-4321
Tel: (888)884-3227
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: 0845 094 1548
Email: info@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/

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

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

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