Fanconi anemia (FA) is a recessively inherited disorder associated with developmental abnormalities, progressive bone marrow failure (aplastic anemia), and a high incidence of malignancies, which cause a strongly reduced life expectancy. The anemia can be cured by transplantation of bone marrow stem cells from a compatible donor. Cells derived from patients with FA are hypersensitive to agents that cause cross-links in the DNA; this feature is used to confirm a diagnosis of FA. Currently, there are at least 15 distinct genes that - when mutated - cause FA. The proteins encoded by these genes function in a biochemical pathway (the FA pathway) that is essential to maintain the integrity of the genetic information during the process of DNA replication, presumably by the repair of damaged DNA and/or by coordinating the action of other DNA repair pathways. The FA pathway exists - in its fully developed form - only in vertebrates, that is, from fish to humans.
|Title of host publication||Brenner's Encyclopedia of Genetics: Second Edition|
|Publication status||Published - 2013|
|Name||Brenner's Encyclopedia of Genetics: Second Edition|
de Winter, J. P., & Joenje, H. (2013). Fanconi Anemia. In Brenner's Encyclopedia of Genetics: Second Edition (pp. 17-20). (Brenner's Encyclopedia of Genetics: Second Edition). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-374984-0.00518-0