Fanconi anaemia

Dr Owen Kang and Radswiki et al.

Fanconi anaemia (FA) is a rare disorder characterised by progressive bone marrow failure, various congenital abnormalities, and predisposition to malignancies (often acute myeloid leukaemia). It is considered the commonest type of inherited marrow failure syndrome 7

Fanconi anaemia should not to be confused with Fanconi syndrome which is a renal disease. 

The estimated incidence is at ~1:350,00 births. There may be a higher frequency in Ashkenazi Jews and Afrikaners in South Africa. There might also be a slight male predilection. 

Genetics

It mostly carries an autosomal recessive inheritance (> 99%).

Classification 

There are at least 13 genetic subtypes described:

  • type a
  • type b
  • type c
  • type d1
  • type d2
  • type e
  • type f
  • type g
  • type i 
  • type j 
  • type l
  • type m
  • type n
Associations

Although non-specific, these are one of the best described features and include:

The main cause of mortality is from marrow failure. 

First described by Guido Fanconi in 1927.

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Article Information

rID: 13077
Section: Pathology
Synonyms or Alternate Spellings:
  • Fanconi's anaemia
  • Fanconi anemia
  • Fanconi's anemia
  • Fanconi anaemia (FA)
  • Pancytopenia-dysmelia syndrome

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