Rare Bone Marrow Failure Conditions

The bone marrow failure (BMF) syndromes are a heterogeneous group of clinically and pathologically distinct disorders, which are all characterized by cytopenias associated with decreased or absent normal hematopoiesis. The resultant anemia, thrombocytopenia, and/or neutropenia can have significant clinical consequences for the patient, and morbidity and mortality are due to the progressive natural history of many of these conditions, as well as the risk of clonal evolution and complications of suboptimal therapy. Additionally, the diagnostic pathways can be challenging for both the patients and the clinicians caring for them. This chapter focuses on the epidemiology, pathophysiology, clinical features, diagnosis, and treatment of several of the most common acquired and inherited BMF disorders including aplastic anemia, paroxysmal nocturnal hemoglobinuria, T cell large granular lymphocyte leukemia, pure red cell aplasia, Fanconi anemia, dyskeratosis congenita, and Diamond–Blackfan anemia.