Abstract
The inherited bone marrow (BM) failure syndromes are a heterogeneous group of disorders characterized by BM failure, usually in association with one or more somatic abnormalities. The BM failure may present at birth or at a variable time thereafter including in adulthood in some cases. Over the last decade, there have been significant advances in the genetics of these syndromes particularly Fanconi's anaemia (FA) and dyskeratosis congenita (DC). These advances are beginning to provide a better understanding of normal haemopoiesis and of the pathophysiology of some cases of idiopathic aplastic anaemia (AA). They have also provided important insights into some aspects of DNA repair (FA/BRCA pathway) and telomere maintenance (DC-related genes), two pathways critical in the maintenance of genomic stability. These advances are already facilitating better diagnosis of patients with these disorders. It is hoped that they will also form the basis for developing new treatments.
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