Bone marrow failure syndromes

Diagnosis of the inherited bone marrow failure syndromes depends on a combi nation of clinical suspicion and laboratory specificity. The major pancytop enias include Fanconi's anemia, dyskeratosis congenita, Schwachman-Diamond syndrome, cartilage-hair hypoplasia, Pearson's syndrome, reticular dysgenes is, amegakaryocytic thrombocytopenia, and familial aplastic anemias. The si ngle cytopenias include Diamond-Blackfan anemia, Kostmann's syndrome, and t hrombocytopenia with absent radii. This chapter discusses the laboratory an alyses which may he useful for these diagnoses.