Abstract
Diagnosis of the inherited bone marrow failure syndromes depends on a combination of clinical suspicion and laboratory specificity. The major pancytopenias include Fanconi’s anemia, dyskeratosis congenita, Schwachman-Diamond syndrome, cartilage-hair hypoplasia, Pearson’s syndrome, reticular dysgenesis, amegakaryocytic thrombocytopenia, and familial aplastic anemias. The single cytopenias include Diamond-Blackfan anemia, Kostmann’s syndrome, and thrombocytopenia with absent radii. This chapter discusses the laboratory analyses which may be useful for these diagnoses.
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