What is Fanconi Anaemia (FA)?
Fanconi Anaemia FAmily Support aims to actively promote a better understanding of FA and the best forms of management / treatment among those affected by FA, their FAmilies and other interested parties.
FA is one of the inherited anaemias that leads to bone marrow failure (aplastic anaemia). It is a rare, Cancer-predisposing genetic condition. It is an autosomal recessive disorder: this means that if both parents carry a defect (mutation) in the same FA gene, each of their children has a 25% chance of inheriting the defective gene from both parents. When this happens, the child will have FA.
The full extent is not clear but it is believed that this condition may affect around 150 families in the UK. No exact figures exist and there may be issues surrounding both diagnosis and inclusion of minority groups but it probably affects anywhere between 1 in 350 000 and 1 in 500 000 of the population.
Scientists have discovered fifteen FA or FA-like genes (A, B, C, D1 (BRCA2), D2, E, F, G, I, J, L, M, N, P and RAD51C). These genes account for almost all of the cases of Fanconi Anaemia. Mutations in FA-A, FA-C, and FA-G are the most common and account for approximately 85% of the FA patients worldwide. FA-D1, FA-D2, FA-E, FA-F, and FA-L account for 10%. FA-B, FA-I, FA-J, FA-M, and FA-N represent less than 5% of FA patients. Twelve of the Fanconi Anaemia genes have been cloned.
FA occurs equally in males and females. It is found in all ethnic groups. Though considered primarily a blood disease, it can affect all systems of the body. Many patients eventually develop acute myeloid leukaemia (AML) and at a very early age. FA patients are extremely likely to develop head and neck, gynaecological, and/or gastrointestinal squamous cell carcinomas, again at a much earlier age than in squamous cell carcinoma patients in the general population. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problem associated with FA still must have regular examinations to watch for signs of Cancer.
Why is Fanconi Anaemia relevant to the general population?
The DNA repair mechanism known as the Fanconi pathway is relevant to everybody. It provides a new future target for drugs used in the treatment of Cancers in general. Finding out how to block / control / manage the Fanconi pathway will help to make chemotherapy treatments more effective. BRCA2 (one of the "breast cancer genes") forms part of the Fanconi pathway; a child is affected by the FANC-D1 genetic subgroup when both parents are heterozygotes (carriers) for BRCA2 with an increased risk of breast cancer to the mother.
Scientists have discovered fifteen FA or FA-like genes (A, B, C, D1 (BRCA2), D2, E, F, G, I, J, L, M, N, P and RAD51C). These genes account for almost all of the cases of Fanconi Anaemia. Mutations in FA-A, FA-C, and FA-G are the most common and account for approximately 85% of the FA patients worldwide. FA-D1, FA-D2, FA-E, FA-F, and FA-L account for 10%. FA-B, FA-I, FA-J, FA-M, and FA-N represent less than 5% of FA patients. Twelve of the Fanconi Anaemia genes have been cloned.
FA occurs equally in males and females. It is found in all ethnic groups. Though considered primarily a blood disease, it can affect all systems of the body. Many patients eventually develop acute myeloid leukaemia (AML) and at a very early age. FA patients are extremely likely to develop head and neck, gynaecological, and/or gastrointestinal squamous cell carcinomas, again at a much earlier age than in squamous cell carcinoma patients in the general population. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problem associated with FA still must have regular examinations to watch for signs of Cancer.
Why is Fanconi Anaemia relevant to the general population?
The DNA repair mechanism known as the Fanconi pathway is relevant to everybody. It provides a new future target for drugs used in the treatment of Cancers in general. Finding out how to block / control / manage the Fanconi pathway will help to make chemotherapy treatments more effective. BRCA2 (one of the "breast cancer genes") forms part of the Fanconi pathway; a child is affected by the FANC-D1 genetic subgroup when both parents are heterozygotes (carriers) for BRCA2 with an increased risk of breast cancer to the mother.
