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Inherited bone marrow failure syndromes 

Inherited bone marrow failure syndromes
Chapter:
Inherited bone marrow failure syndromes
Author(s):

Irene Roberts

, and Inderjeet S. Dokal

DOI:
10.1093/med/9780198746690.003.0528
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date: 07 March 2021

Inherited forms of bone marrow failure may involve all haematopoietic lineages or a single lineage. They are rare, but collectively account for 20 to 30% of patients presenting with aplastic anaemia. They may present at birth or in infancy or childhood, but also sometimes in adults. Associated somatic abnormalities may be helpful in diagnosis. Two of the best characterized syndromes are Fanconi’s anaemia and dyskeratosis congenita, both frequently associated with generalized bone marrow failure. Other well-recognized disorders lead to much more specific abnormalities affecting a single cell type (e.g. impaired red cell production in Diamond–Blackfan anaemia and impaired neutrophil production in Shwachman–Diamond syndrome) and reduced platelet production in thrombocytopenia with absent radii syndrome. Advances in understanding the genetics of inherited bone marrow failure syndromes have provided valuable insight into their pathophysiology, and also into normal haematopoiesis.

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