Bone Marrow Failure

Bone marrow failure (BMF) syndromes can be classified into inherited and acquired. In addition to the classic clinical presentation of inadequate hematopoiesis (anemia, leukopenia, and thrombocytopenia), which can initially be isolated cytopenias and then progress to marrow aplasia, inherited bone marrow failure syndromes can present with characteristic non-hematologic clinical findings. Patients can be diagnosed shortly after birth or the diagnosis can be delayed into adulthood. BMF syndromes can be premalignant conditions that can progress into myelodysplastic syndrome and/or acute leukemia. Some patients are at higher risk of solid tumors. Early diagnosis, prompt management of complications (infections, bleeding, organ failures), and early referral for hematopoietic stem cell transplantation can be associated with improved outcome. In this chapter we will discuss the most common bone marrow failure syndromes, acquired idiopathic aplastic anemia, Fanconi anemia, Diamond-Blackfan anemia, dyskeratosis congenita, and Shwachman-Bodian-Diamond syndrome.