Fanconi Anemia and Other Hereditary Bone Marrow Failure Syndromes

Inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of rare blood disorders due to hematopoiesis impairment, with different clinical presentations and pathogenic mechanisms. Some patients present with congenital malformations, may progress through clonal evolution (myelodisplasia, MDS and acute leukemia, AL) and are at risk for solid tumors at early ages. With the rapid evolution of diagnostic accuracy, the number of identified genetic defects rises annually. HCT is a curative treatment for these congenital disorders. However, it should be well understood that it will only correct the hematopoietic deficiency and will not cure the congenital malformations or reduce the risk of solid tumors. Moreover, HCT per se may increase this risk additionally. Consequently, the decision to transplant a patient should be taken by a multidisciplinary team. HCT must be performed at specialized centers owing to patient susceptibilities to toxicity and the need for specific management during and after the procedure. The general recommendations for management of IBMFS are included in the key points at the end of the chapter.