Fanconi anemia

Last revised by Rohit Sharma on 2 Dec 2019

Fanconi anemia is a rare disorder characterized by progressive bone marrow failure, various congenital abnormalities, and predisposition to malignancies (often acute myeloid leukemia). Bone marrow failure usually results in decreased production of all blood cells. It is considered the commonest type of inherited marrow failure syndrome 7,11. It is almost invariably inherited in an autosomal recessive pattern.

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

The estimated incidence is ~1:35,000 births. There may be a higher frequency in Ashkenazi Jews and Afrikaners in South Africa. There might also be a slight male predilection. 

  • horseshoe kidney 6
  • endocrine abnormalities
  • hepatic tumors 12
  • squamous cell carcinomas
    • esophagus
    • vulva
    • oropharynx 12

It is mostly transmitted by autosomal recessive inheritance (>99%).

At least 13 genetic subtypes are 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

Although non-specific, commonly described features include:

The main cause of mortality is from marrow failure. Treatments include transfusion of blood products and bone marrow transplants. As most cases are inherited, genetic counseling is important.

First described by a Swiss pediatrician, Guido Fanconi (1892-1979), in 1927 8,9.

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Cases and figures

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  • Case 2
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