Fanconi anemia (FA) is an autosomal recessive chromosomal instability disorder, 
characterized by congenital anomalies, defective hematopoiesis and a high risk 
of developing acute myeloid leukemia and certain solid tumors. All racial and 
ethnic groups are at risk, and at least 11 complementation groups have been 
identified and the genes defective in eight of these have been identified 
(FANCA, C, D2, E, F, G, L and BRCA2). FA-A is the most common complementation 
group, accounting for approximately 65% of all affected individuals. The 
gold-standard screening test for FA is based on the characteristic 
hypersensitivity of FA cells to the crosslinking agents, such as mitomicin C or 
diepoxybutane. Recent progress has been made in identifying the genes bearing 
pathogenetically relevant mutations, but slower progress has been made in 
defining the precise functions of the proteins in normal cells, in part because 
that the proteins are multifunctional. Molecular studies have established that a 
common pathway exist, both between the FA proteins and other proteins involved 
in DNA repair such as NBS1, ATM, BRCA1 and BRCA2. Stem cell transplantation 
(SCT) is the only option for establishing normal hematopoiesis. To reduce undue 
toxicities due to inherent hypersensitivity, nonmyeloablative conditioning for 
transplants has been advocated. This review summarizes the general clinical and 
hematologic features and the current management of FA. Fanconi anemia (FA) is 
the commonest type of inherited bone marrow failure syndrome with the birth 
incidence of around three per million. The inheritance pattern is autosomal 
recessive with the estimated heterozygote frequency being one in 300 in Europe 
and the US.