Inherited Bone Marrow Failure Syndrome–Fanconi Anemia

IBMF syndrome (IBMF) is a group of rare but serious hematological disorders with wide phenotypic variation. The etiopathogenesis is complex, and for effective management, it is important to differentiate them from each other as well as conditions such as hypoplastic MDS, autoimmune myelofibrosis, PNH, etc. Patients are prone to aplastic anemia, MDS, and malignancy. Fanconi anemia is the most common inherited cause of bone marrow failure. In this chapter, a clinical case scenario is presented followed by a step-by-step evidence-based approach to utilize specialized and advanced tests to unravel final diagnosis of Fanconi anemia. A comprehensive description of pathophysiology of disease, role of testing erythrocyte adenosine deaminase levels and sensitivity of testing telomere length in Fanconi anemia are discussed in question–answer format. Salient points are summarized for quick revision. To gain expertise in this topic and enhance your diagnostic skills for effective planning of management, read this chapter on inherited bone marrow failure syndrome–Fanconi anemia.