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Anemia, Blackfan Diamond

Abstract

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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

  • No subdivisions found.

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

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