Pathophysiology of Fanconis anaemia

FA affects all cells of the body and the cellular phenotype is characterised by increased chromosomal breakage, hypersensitivity to DNA cross-linking agents such as diepoxybutane (DEB) and mitomycin C (MMC), hypersensitivity to oxygen, increased apoptosis and accelerated telomere shortening. The increased chromosomal fragility is characteristic and used as a diagnostic test. Apart from progressive marrow failure, 70% of FA patients show somatic abnormalities, chiefly involving the skeleton. 90% develop marrow failure and survivors show an increased risk of developing leukaemia, chiefly AML. Rarely, FA can present as AML. There is also an increased risk of liver tumours and squamous cell carcinomas.

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