Synonyms: Fanconi anaemia, FA, inherited bone marrow failure syndrome
This condition was first described by Fanconi in 1927.1 It is the most common of a group of relatively rare diseases known as the inherited bone marrow failure syndromes (IBMFS). It is inherited in an autosomal recessive fashion apart from one gene (FANCB) which is found on the X chromosome.2It is due to a disorder of chromosomal stability. 14 affected genes have been identified to date and those affected are homozygous for one, or heterozygous for two separate loci. The proteins are believed to be integral to mechanisms that repair damage to DNA, by removing faulty interstrand cross links. This results in the bases of opposing DNA strands being covalently linked, inhibiting critical cellular processes such as transcription and replication. Cells derived from Fanconi's anaemia patients are severely sensitive to DNA cross-linking agents, including mitomycin C, psoralen-UVA, cisplatin and diepoxybutane.3
This is a companion discussion topic for the original article at https://patient.info/doctor/fanconis-anaemia