Fanconi anemia (FA) is an autosomal recessive disorder that is defined by 
cellular hypersensitivity to DNA cross-linking agents, and is characterized 
clinically by developmental abnormalities, progressive bone-marrow failure, and 
predisposition to leukemia and solid tumors. There is extensive genetic 
heterogeneity, with at least 11 different FA complementation groups. FA-A is the 
most common group, accounting for approximately 65% of all affected individuals. 
The mutation spectrum of the FANCA gene, located on chromosome 16q24.3, is 
highly heterogeneous. Here we summarize all sequence variations (mutations and 
polymorphisms) in FANCA described in the literature and listed in the Fanconi 
Anemia Mutation Database as of March 2004, and report 61 novel FANCA mutations 
identified in FA patients registered in the International Fanconi Anemia 
Registry (IFAR). Thirty-eight novel SNPs, previously unreported in the 
literature or in dbSNP, were also identified. We studied the segregation of 
common FANCA SNPs in FA families to generate haplotypes. We found that FANCA SNP 
data are highly useful for carrier testing, prenatal diagnosis, and 
preimplantation genetic diagnosis, particularly when the disease-causing 
mutations are unknown. Twenty-two large genomic deletions were identified by 
detection of apparent homozygosity for rare SNPs. In addition, a conserved SNP 
haplotype block spanning at least 60 kb of the FANCA gene was identified in 
individuals from various ethnic groups.