Diagnosis and Management of Fanconi Anemia

Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by pancytopenia, cancer predisposition, and physical abnormalities, due to its variable disease manifestations, diagnostic delays are common, making the management of FA is challenging. The core pathophysiology of FA lies in defects in the FA DNA repair pathway, which is crucial for resolving interstrand crosslinks (ICLs) and maintaining genomic stability. Hematopoietic stem cell transplantation (HSCT) remains the only curative treatment for FA-associated hematological abnormalities, but its success is influenced by donor type, patient age, conditioning regimens, and graft-versus-host disease (GVHD) management. This review synthesizes current knowledge on FA genetics and pathophysiology, comprehensively analyzes HSCT outcomes in pediatric patients, discusses factors influencing transplant success, and explores emerging therapeutic strategies including gene therapy. By integrating data from large multicenter studies and recent mechanistic insights, this review provides a comprehensive update for clinicians and researchers involved in the care of FA patients.