Note about updates
We update chapters on an ongoing basis. Updated chapters will be shared via PDF below and on each chapter’s page.

Spring 2023: Chapter 2 updated version (Diagnosis)
Summer 2023: Chapter 3 updated version (Hematologic Issues)

About the Guidelines

Fanconi Anemia Clinical Care Guidelines, Fifth Edition, is a publication of the Fanconi Anemia Research Fund. The fifth edition is a revision of the fourth edition published in 2014. The contributing authors are physicians or clinical care providers with expertise in treating patients with Fanconi anemia (FA). The fifth edition provides evidence-based recommendations from published peer-reviewed medical literature and is geared toward clinical providers as the primary intended audience. Patients and families who wish to secure optimal treatment by improving their understanding of FA may also benefit from this edition.

The fifth edition starts with a brief summary of the molecular mechanisms of the FA DNA repair pathway and the diagnostic testing process for FA. Subsequent chapters examine more specific health issues faced by people with FA, including hematologic issues, squamous cell carcinoma, oral and dental care, gynecologic care, dermatologic care, gastrointestinal issues, endocrine disorders, hearing and ear issues, and skeletal abnormalities. The guidelines conclude with a summary of clinical care recommendations for patients with FA.

Questions? Email us.