Bone marrow failure syndromes in children

Many forms of bone marrow failure are inherited. The disorders in which pancytopenia is a major complication include Fanconi's Anemia, dyskeratosis congenita, Shwachman-Diamond syndrome (which may begin with neutropenia), amegakaryocytic thrombocytopenia (which begins with thrombocytopenia), and other more rare familial syndromes. The single cytopenias which usually do not evolve to pancytopenia include pure red cell aplasia (Diamond-Blackfan Anemia), pure neutropenia (Severe Congenital Neutropenia), and thrombocytopenia (thrombocytopenia with absent radii). Some of the genes involved in some of these sydromes have been identified. The risk of malignancies, both leukemia and solid tumors, is increased in many of these conditions.