- Blackfan-Diamond anaemia
- Diamond-Blackfan anaemia
- Diamond-Blackfan disease
- Josephs-Diamond-Blackfan syndrome
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.
- 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:
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.