- A dictionary of medical eponyms

Diamond-Blackfan syndrome

Alternative eponyms

  • Blackfan-Diamond anaemia
  • Diamond-Blackfan anaemia
  • Diamond-Blackfan disease
  • Josephs-Diamond-Blackfan syndrome

Related people

Congenital hypoplastic anaemia.

Description

A rare, progressive haematological disorder which presents in early childhood. It is a normocytic and normochromic aplastic or hypoplastic anaemia, resulting from defective erythropoiesis and lack of nucleated erythrocytes in the bone marrow. The defect of red cell production becomes apparent at 3-12 months of age. White cells and platelets are spared. Inheritance is usually autosomal recessive but autosomal dominant transmission has been reported.

Bibliography

  • L P. Kaznelson:
    Zur Entstehung der Blutplättchen. Verhandlungen der Deutschen Gesellschaft für Innere Medizin, München, 1922, 34: 557.
  • H. W. Josephs:
    Anemia in infancy and early childhood. Medicine, Baltimore, 1936, 15: 307.
  • K. Diamond, K. D. Blackfan:
    Hypoplastic anemia.
    American Journal of Diseases of Children, Chicago, 1938, 56: 464.
  • M. L. Bodian:
    Fibrocystic Disease of the Pancreas. A Congenital Disorder of Mucus Production (Mucosis). London, W. Heinemann, 1952.

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