Fanconi Anemia

J. P. de Winter, H. Joenje

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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.
ISBN (Electronic)9780080961569
ISBN (Print)9780123749840
Publication statusPublished - 2013

Publication series

NameBrenner's Encyclopedia of Genetics: Second Edition

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