Advances In Gene Therapy for Fanconi Anemia Using Hematopoietic Stem Cells: Current Approaches and Future Directions

Fanconi anemia (FA) is a rare inherited disorder characterized by bone marrow failure and chromosomal instability, primarily caused by biallelic mutations in FANC genes, particularly FANCA. This condition affects approximately 1 in 100,000 to 160,000 live births and leads to severe health risks, including increased susceptibility to cancers such as acute myeloid leukemia and solid tumors. Patients often present with physical abnormalities and hematological issues, typically diagnosed between ages 5 to 15. Treatment options include hematopoietic stem cell transplantation (HSCT) and supportive therapies, with ongoing monitoring essential for managing complications and improving outcomes. Lifelong multidisciplinary care is crucial for affected individuals to address the disorder's diverse manifestations and associated health risks.