Description
A number of constitutional (inherited/familial) disorders are associated with bone marrow (BM) failure (see Table 1).1 Since many patients also have a variable number of somatic abnormalities the term constitutional bone marrow failure syndromes may be more appropriate. They constitute an exciting group of disorders since they represent in-vivo models for understanding the pathophysiology of idiopathic aplastic anaemia (AA). Amongst them Fanconi’s anaemia (FA) and dyskeratosis congenita (DC) are the best characterised. In the following review FA and DC will therefore be discussed in some detail followed by shorter accounts of Shwachman-Diamond syndrome (SDS), Diamond- Blackfan anaemia (DBA) and thrombocytopenia with absent radii (TAR).
