Fanconi Anemia (FA) is a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and an increased risk of cancer. It is estimated that the prevalence of FA is approximately 1 in 131,000 to 1 in 159,000 individuals worldwide. Although FA affects people of all ethnicities, certain populations, such as Ashkenazi Jews, have a higher incidence of the disorder.
FA is an autosomal recessive disorder, meaning that both parents must carry a mutated gene for their child to be affected. The condition is caused by mutations in any of the 22 known FA genes, which play a crucial role in DNA repair. These mutations lead to impaired DNA repair mechanisms, resulting in the accumulation of genetic damage and increased susceptibility to cancer.
Due to its rarity, FA often goes undiagnosed or misdiagnosed, making it challenging to determine the exact prevalence. Genetic testing and clinical evaluations are essential for accurate diagnosis and appropriate management of FA patients.