Fanconi anemia is an autosomal recessive genetic disorder, which usually results in severe bone marrow failure and is characterized by diverse congenital abnormalities and a predisposition to malignancy. It is the most common genetic form of aplastic anemia.
At least five different genes can result in FA, if mutated. The genes for two of these subtypes have been isolated, and mutation studies can be used to determine if a patient is in either of these groups.
Fanconi anaemia occurs in all racial and ethnic groups. The disease frequency varies among ethnic groups and is particularly high in the Ashkenazi Jewish population. Clinical variability may be explained in part by genetic heterogeneity.