WHAT IS FANCONI ANAEMIA (FA)?

Fanconi Anaemia (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 a 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.

There are at least thirteen FA genes (A, B, C, D1 (BRCA2), D2, E, F, G, I, J, L, M and N). 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.