Causes Fanconi anaemia is an autosomal recessive inherited disease. Autosomal means the abnormal gene is carried on the non-sex chromosomes and so it affects boys and girls equally. Recessive means that it only causes problems if the child inherits the same defective gene from both parents. A child with one normal gene and one affected gene will be clinically unaffected by the disease. It has been estimated that the frequency of carriers is between 1 in 100 and 1 in 600 in the general population.
Fanconi anaemia is more likely to occur after first cousin marriages.
They have not yet been isolated for study. There is a very wide spectrum of disease presentation in Fanconi anaemia, related to the 5 different versions of abnormal genes. Within families disease may present in childhood, adolescence or as adults. Most children with Fanconi anaemia remain well until they are between 3 and 12 years old. In some cases there may be physical abnormalities typical of Fanconi anaemia which may be noted at birth.