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Fanconi Anaemia (type C)

Fanconi anaemia (type C) is a disorder characterised by short stature, bone marrow failure, and an increased risk for leukaemia and other cancers. Physical defects at birth are very common and learning difficulties from birth are not unusual.

If you have just received a diagnosis there is help and support available - please see ‘Further information and support’ below for links to valuable resources. It is also important to note that not every person with this condition experiences all the symptoms described and it is worth talking to your doctor or other relevant healthcare specialists to discuss you or your family member’s individual case.

Inheritance

Fanconi anaemia (type C) is an autosomal recessiveRecessive disorders require both parents to carry a specific disorder-related mutation and pass it on to their child for the disorder to be inherited condition.

Prevalence

There are at least 15 different genes that can be mutated in Fanconi anaemia that affect the general population, however Fanconi anaemia type C is the most common type to be found in people of Ashkenazi ancestry.

The carrier frequency in the Ashkenazi Jewish population is approximately 1 in 89.

Symptoms

Symptoms tend to become evident during the first two decades, often before the age of 12 years. However, in some more uncommon cases symptoms do not present until adulthood.

Common signs and symptoms of the disease include:

  • Physical abnormalities may be present at birth and occur in approximately 70% of cases, including:
    • extra, misshapen, or missing thumbs
    • incomplete or missing radial bone of the lower arm
    • defects of other body areas e.g. heart, kidney, genital, hips, spine ribs or other limbs
    • skin discolouration (‘café-au-lait’ spots)
  • Low birth weight
  • Short stature
  • Low blood counts and progressive bone marrow failure
  • Predisposition to cancer, in particular leukaemia and very early head and neck squamous cell carcinoma
  • Extreme fatigue, frequent infections, nosebleeds or easy bruising resulting from bone marrow failure


Please click on the titles to open and close the following information sections.

The disorder is caused by changes in genes that are responsible for copying and repairing DNA in cells. These changes result in the increased levels of chromosome breakage and the characteristics of Fanconi anaemia.

There is currently no cure for Fanconi anaemia of any type. Treatment using steroids to improve peripheral blood counts is available but the benefits are not permanent and side effects are common. Bone marrow transplantation can be used to cure blood problems however it is not without its risks or complications. People diagnosed with Fanconi anaemia are advised to have increased surveillance for Leukaemia and cancers, and to avoid unnecessary sun exposure and other toxic agents, such as alcohol and tobacco. 

People with Fanconi anaemia (type C) have a shortened life-span, typically as a consequence of developing a cancer-related illness.

A diagnosis can be made based on clinical observation and chromosome breakage analysis which is carried out on a blood sample. The diagnosis can be confirmed via genetic testing that looks for mutations on the gene responsible for Fanconi anaemia (type C).

Both carrier testing (with a detection rate for carriers of about 99%) and prenatal testing are now possible. One mutation in particular accounts for the vast majority of cases among Ashkenazi Jews.

For more details about testing, please refer to the testing section.

Fanconi Hope

Fanconi Hope is a charity that raises money for research and family events and works with medical professionals to produce reliable information and raise awareness about Fanconi anaemia. The site has information for families, clinicians and researchers and other resources.

Tel: 0845 271 2811

Fanconi Anemia Research Fund (USA)

This USA-based Research Fund works to help find effective treatments and a cure for Fanconi anemia and to provide education and support services to affected families worldwide. The site has fact sheets, guidelines for diagnosis and management and has an active bulletin board.

To find out more about general resources relevant to Jewish genetic disorders, please visit our resources and support section.

 

Written by Jnetics.
Reviewed by Dr Stefan Meyer, Honorary Consultant Paediatric Oncologist at the Royal Manchester Children’s Hospital
Last review date: 28.1.2015