Inherited Bone Marrow Failure Syndromes: Biology and Diagnostic Clues

Inherited bone marrow failure syndromes are a group of genetic disorders associated with bone marrow production defects resulting in single or multiple cytopenias. Many of these disorders predispose the patient to hematologic and nonhematologic malignancies, requiring life-long follow-up. A positive family history of hematologic disorders or malignancies is frequent, as these disorders commonly run in families, and selection of family members as potential bone marrow donors should be performed with caution to avoid transplanting potentially defective stem cells. This review highlights the most common genetic disorders associated with bone marrow failure.