What is Fanconi Anemia

Fanconi Anemia (FA) is a rare genetic disorder characterized by bone marrow failure, increased risk of cancer, and various physical abnormalities. It primarily affects children, although symptoms may not appear until later in life.

FA is caused by mutations in genes responsible for repairing damaged DNA. As a result, individuals with FA have impaired DNA repair mechanisms, leading to the accumulation of genetic abnormalities and increased susceptibility to cancer. The bone marrow failure associated with FA leads to a decrease in the production of red and white blood cells and platelets, resulting in anemia, increased infections, and bleeding problems.

Physical abnormalities commonly observed in individuals with FA include skeletal malformations, short stature, abnormal skin pigmentation, and organ defects. FA is also associated with an increased risk of developing solid tumors and blood cancers, such as leukemia.

While there is no cure for FA, treatment focuses on managing symptoms and complications. This may involve blood transfusions, medications to stimulate blood cell production, and bone marrow transplantation. Regular monitoring for cancer development is crucial, and early intervention can improve outcomes.