Fanconi Anemia Group C
A rare, inherited blood disorder that leads to bone marrow failure.
Impact of Gene Variants
FANCC mutations result in defective DNA repair mechanisms, leading to increased vulnerability to DNA damage and a higher risk of bone marrow failure and cancer development.
Ways to Recognize Problems
Symptoms of FANCC include anemia, easy bruising, birth defects, and an increased risk of leukemia and solid tumors. Genetic testing is necessary to confirm the presence of FANCC mutations.
Ways to Improve
Management of FANCC involves regular medical monitoring, supportive care, and treatments such as blood transfusions, bone marrow transplants, and cancer surveillance. Genetic counseling and testing can help identify affected individuals and guide treatment decisions.
Did you know
Fanconi anemia affects approximately 1 in 130,000 births.
