Fanconi Anemia (FA) is a rare genetic disorder characterized by a variety of birth defects, bone marrow failure, and an increased risk of developing certain types of cancer. It is an inherited condition that affects the body's ability to repair damaged DNA.
Individuals with Fanconi Anemia typically have physical abnormalities, such as short stature, skeletal malformations, and skin discoloration. In addition, they may experience developmental delays, kidney problems, and hearing loss. Furthermore, FA patients exhibit bone marrow failure, which leads to a low production of red and white blood cells and platelets, resulting in anemia, increased susceptibility to infections, and bleeding disorders.
One of the primary concerns in Fanconi Anemia is the increased risk of developing cancers, particularly leukemia and solid tumors, such as head, neck, and gynecological cancers, at an early age. These individuals are also prone to other medical issues, such as heart defects, gastrointestinal abnormalities, and hormonal problems.
Fanconi Anemia is caused by mutations in any of the at least 23 identified genes involved in the FA pathway, a complex network responsible for repairing DNA damage. The condition is typically inherited in an autosomal recessive manner, requiring two copies of the mutated gene, one from each parent, for an individual to be affected.
Diagnosis of Fanconi Anemia involves genetic testing, bone marrow evaluation, and analysis of certain cellular characteristics. Treatment options include blood transfusions, bone marrow transplantation, and management of associated medical conditions. Early detection and monitoring, along with supportive care, are crucial in improving the quality of life and survival rates for individuals with Fanconi Anemia.
