Fanconi anemia

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

Terminology

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

Epidemiology

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. 

Associations

• horseshoe kidney ⁶
• endocrine abnormalities (such as hypothyroidism, short stature and/or growth hormone deficiency) ¹⁰

Pathology

Genetics

It is mostly transmitted by 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

Radiographic features

Although non-specific, commonly described features include:

• radial ray anomalies: including absent thumb
• triphalangeal thumb

Treatment and prognosis

The main cause of mortality is from marrow failure. 

History and etymology

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