DISEASE SCANNER
Global Incurable Diseases Tracker
Fanconi Anemia
A rare inherited bone marrow failure syndrome caused by mutations in DNA repair genes. Characterized by pancytopenia, congenital abnormalities, and increased risk of leukemia and solid tumors. 22 different complementation groups identified.
20.0K
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Progressive bone marrow failure by age 40-50. Cancer risk 50x normal (AML, head and neck, gynecologic). Lifelong surveillance required. Transplant improves survival but increases cancer risk.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Androgens and G-CSF for cytopenias. Hematopoietic stem cell transplant only curative for bone marrow failure. Gene therapy trials ongoing. Cancer surveillance critical. Avoidance of DNA-damaging agents.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.