Diagnosis and Treatment of Fanconi Anemia: Special Focus on Nuclease-Mediated Gene Therapy

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Number of pages: 31-35
Year-Number: 2021-2

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Abstract

Fanconi anemia is the most frequently reported group of rare hereditary bone marrow failure syndromes. The pathogenesis of the disease includes progressive bone marrow failure, developmental abnormalities, and enhanced predisposition of cancer. The main reason for childhood death in Fanconi anemia patients is bone marrow failure. Unfortunately, most children with Fanconi anemia later develop acute myeloid leukemia or myelodysplastic syndrome. In addition, adult patients are more prone to additional malignancies. To date, 22 different genes have been reported to cause Fanconi anemia. In the treatment of the disease, mainly androgens, and hematopoietic stem cell transplantation (HSCT) applications are included. However, androgen is not a definitive treatment, and its side effects can be severe. Although allogenic HSCT has some side effects, including the high risk of graft-versus-host (GVHD) and difficulty in finding donors, it is used compulsorily since there is no alternative therapy. For these reasons, there is a need for more specific, personalized, and effective solutions for the treatment of Fanconi anemia. Recent advances have been made in gene editing approaches from research for the treatment of single-gene diseases. There are different gene-editing methods available today; yet, the current diagnosis and treatment methods and nuclease-based gene-editing methods of Fanconi anemia will be discussed in this review.

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