About Fanconi Anaemia
What is Fanconi Anaemia?
FA is a rare, cancer-predisposing disorder affecting about 150 or more families in the UK (the true extent is unknown) manifested by:
- A variable presence of congenital anomalies in up to 70% of cases (e.g., thumb and kidney abnormalities)
- Progressive bone marrow failure in childhood usually leading to haematopoietic stem cell transplantation (80% chance)
- A predisposition to acute myeloid leukaemia (10% chance), and in particular, oropharyngeal/anogenital squamous cell carcinoma in early adulthood (over 50% in post-bone marrow transplant survivors).
There are 13 genetic subgroups, also known as complementation groups, reflecting 13 different proteins that can be potentially affected in the Fanconi pathway, a DNA housekeeping mechanism.
Some of these genetic subgroups have additional issues such as subgroup FA-D1, where affected children are at high risk of brain medulloblastoma and renal Wilm’s tumour. Some FA genetic subgroup carriers are also at increased risk of malignancy. BRCA2, one of the ‘breast cancer genes’ is actually part of the Fanconi pathway. A FA-D1 affected child is where both parents are carrier for BRCA2 with resultant increased breast cancer risk for the mother.
The US Fanconi Anaemia Research Fund Fact Sheet gives a good overview of the condition and their handbook is also recommended reading.
The ‘Contact a Family’ website has some UK-based information written by Dr C G Steward, Reader in Stem Cell Research, Bristol Children’s Hospital, Bristol, UK.
