Fanconi Anaemia
Overview
Fanconi anaemia, or FA, is a rare, inherited blood disorder that leads to bone marrow failure. FA is a type of aplastic anaemia that prevents your bone marrow from making enough new blood cells for your body to work normally. FA can also cause your bone marrow to make many abnormal blood cells. This can lead to serious health problems, such as leukemia.
Causes
FA is a blood disorder, but it can also affect many of the body’s organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects, and people who have FA are at higher risk of some cancers and other serious health problems.
FA is an unpredictable disease. The average lifespan for people with FA is between 20 and 30 years. The most common causes of death related to FA are bone marrow failure, leukemia, and solid tumours.
FA is an inherited disease – it is passed on from parents to children through the genes. At least 13 faulty genes are associated with FA. FA develops when both parents pass the same faulty FA gene to their child. People who have only one faulty gene are FA carriers which means they don’t have FA, but they can pass the faulty gene to their children.
Signs and symptoms
The symptoms of FA include
- Anaemia
- Bone marrow failure
- Birth defects
- Developmental or eating problems
Treatment
Treatment for FA is based on a person’s age and how well or poorly the person’s bone marrow makes new blood cells.
The four main types of treatment for FA are
- Blood and marrow stem cell transplant
- Androgen therapy
- Synthetic growth factors
- Gene therapy
Risk
FA occurs in all racial and ethnic groups and affects men and women equally. You are at an increased risk of developing the disease if you have a family history of FA.