Fanconi Anemia

J. P. de Winter, H. Joenje

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Abstract

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.
Original languageEnglish
Title of host publicationBrenner's Encyclopedia of Genetics: Second Edition
PublisherElsevier Inc.
Pages17-20
ISBN (Electronic)9780080961569
ISBN (Print)9780123749840
DOIs
Publication statusPublished - 2013

Publication series

NameBrenner's Encyclopedia of Genetics: Second Edition

Cite this

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