All::Haematology::Diseases::Fanconi anaemia

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What is the inheritance pattern of Fanconi anaemia?

Autosomal recessive

Fanconi anaemia

What are the main clinical features of Fanconi anaemia?

  • haematological: aplastic anaemia, increased risk of acute myeloid leukaemia
  • neurological
  • skeletal abnormalities: short stature, thumb/radius abnormalities
  • cafe au lait spots

Fanconi anaemia

What is the pathophysiology of Fanconi anaemia?

impaired response to DNA damage in the FA/BRCA pathway

Fanconi anaemia