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Screening Protocol and Longitudinal Study of Bone Marrow Failure Syndromes and Cytopenias

The purpose of this study is to characterize patients with Bone Marrow Failure Syndromes (BMFS) and to track the clinical course of patients with these diseases over time. An exact and comprehensive diagnosis at presentation is essential. Due to the sporadic nature of BMFS (aplastic anemia, myelodysplastic syndrome, paroxysmal nocturnal hemoglobinuria, pure red cell aplasia, amegakaryocytic thrombocytopenic purpura and large granular lymphocyte leukemia) most diseases have not undergone systematic long-term outcome studies.

Individual diseases, combined under the collective entity of bone marrow failure syndromes, frequently overlap and evolve from each other. The frequency of complications, associations with other diseases, and genetic factors such as allelic polymorphisms are not well studied. Some of these syndromes are likely mediated by the cellular immune system. However, while target antigens are likely to be expressed on early hematopoietic cells, their identification has been unsuccessful.

Hypothesis: Clinical and epidemiologic studies may, through etiologic clues and intricate laboratory testing, facilitate the understanding of the pathophysiology of BMFS and ultimately lead to implementation of better diagnostic tools and more targeted and rational therapies.