Current Clinical Practice: Advances in the Genetics and Biology of Fanconi Anaemia

Abstract

The autosomal recessive disorder Fanconi anaemia (FA) has been the subject of intense study for over a decade. The genes mutated in FA patients are being cloned, but so far, the sequences of these genes have not given any clear indication of their function. Various models for the function of the FA proteins have been postulated to explain the spontaneous chromosomal abnormalities and clastogen sensitivity described in FA cells. This review summarises the critical experimental evidence for and against these models, and attempts to give some indication of the possible mechanisms by which mutations in FA genes cause patients to suffer pancytopaenia and acute myeloid leukaemia, as well as an increased risk of other malignancies.

Keywords:

• Fanconi anaemia
• pancytopaenia
• acute myeloid leukaemia
• DNA repair
• mitomycin C