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