Acquired and inherited bone marrow failure syndromes are characterized by a reduction in the effective production of mature erythrocytes, granulocytes, and platelets by bone marrow. Bone marrow failure leads to various peripheral blood cytopenias.
In some conditions, only one cell line may be affected. In others, such as aplastic anemia, the result is pancytopenia.
Most frequent acquired bone marrow failures are aplastic anemia and refractory cytopenia of childhood. The inherited bone marrow failure syndromes are heterogenous group of disorders usually in association with somatic abnormalities.
They often present in childhood. Over the last two decades there have been considerable advances in the genetics of these syndromes.