Molecular pathogenesis and clinical management of Fanconi anemia
Younghoon Kee, Alan D. D’Andrea
Younghoon Kee, Alan D. D’Andrea
Published November 1, 2012
Citation Information: J Clin Invest. 2012;122(11):3799-3806. https://doi.org/10.1172/JCI58321.
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Science in Medicine

Molecular pathogenesis and clinical management of Fanconi anemia

Abstract

Fanconi anemia (FA) is a rare genetic disorder associated with a high frequency of hematological abnormalities and congenital anomalies. Based on multilateral efforts from basic scientists and clinicians, significant advances in our knowledge of FA have been made in recent years. Here we review the clinical features, the diagnostic criteria, and the current and future therapies of FA and describe the current understanding of the molecular basis of the disease.

Authors

Younghoon Kee, Alan D. D’Andrea

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Figure 1

Pathophysiology of FA.

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Pathophysiology of FA. FA cells are highly vulnerable to endogenous insu...
FA cells are highly vulnerable to endogenous insults, such as ROS, other sources of DNA crosslinkers (e.g., formaldehyde), and exogenous DNA-damaging agents. Repeated exposure to these insults in FA cells during developmental stages can lead to high incidence of congenital abnormalities, bone marrow failure, and cancers.