Causes & Symptoms
What causes Fanconi Anaemia?
Fanconi Anaemia (FA) is caused by a mutation (change) in one of the 23 genes that make up the FA DNA repair pathway. These genes help cells fix damage to DNA, and when they don’t work properly, damage builds up, often leading to bone marrow failure, a higher risk of certain cancers, and other health complications.
Most individuals with FA inherit the faulty gene from both parents. This is called autosomal recessive inheritance. Parents who each carry one FA gene change usually do not have symptoms themselves but can pass the mutation on to their children.
Some FA gene mutations, such as BRCA1 and BRCA2, are also known for increasing breast, ovarian, and other cancer risks outside of FA.
A genetic counsellor can help your family understand the information, choices, and support available around Fanconi Anaemia.
Understand how FA is inherited
Learn about carrier testing for relatives
Explore options for family planning
Access emotional support while processing genetic information
Physical manifestations at birth may include:
Symptoms that may appear later in life include:
Systemic impacts of FA may include:
Because FA is a DNA repair disorder, it can affect many areas of the body, including:
Individuals with FA also face a much higher risk of developing various cancers, particularly solid tumors of the head and neck at a younger age. Learning about cancer prevention in FA is critical for parents, patients and their treating physicians.
The Fanconi Anaemia Clinical Care Guidelines (5th Edition), published by the Fanconi Anaemia Research Fund and authored by FA clinical specialists, is the most comprehensive resource on FA complications and care.