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What is Fanconi Anaemia?

Fanconi Anaemia is a rare, inherited blood disorder that leads to bone marrow failure. Fanconi Anaemia is a type of Aplastic Anaemia that prevents your bone marrow from making enough new blood cells for your body to work normally. This leads to a lack of healthy red blood cells needed to carry adequate oxygen throughout the body.

Causes

Fanconi Anaemia is an inherited disease – it is passed on from parents to children through the genes. At least 13 faulty genes are associated with Fanconi Anaemia. The disease develops when both parents pass the same faulty gene on to their child. People who have only one faulty gene don’t have Fanconi Anaemia, however they are Fanconi Anaemia carriers which means they can pass the faulty gene to their children.

Symptoms

The main symptoms of Fanconi Anaemia include:
•   Bone marrow failure
•   Birth defects
•   Developmental or eating problems

Diagnosis & Treatment

Fanconi Anaemia is diagnosed by a Doctor using a physical examination and blood tests.

Treatment for Fanconi Anaemia 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 Fanconi Anaemia are:
•   Blood and marrow stem cell transplant
•   Androgen therapy
•   Synthetic growth factors
•   Gene therapy

Additional Information

Fanconi Anaemia is an unpredictable disease. It is a blood disorder, but it can also affect many of the body’s organs, tissues, and systems.

Fanconi Anaemia can also cause your bone marrow to make many abnormal blood cells. This can lead to serious health problems, such as leukemia.

Children who inherit Fanconi Anaemia are at higher risk of being born with birth defects, and are at higher risk of some cancers and other serious health problems. The average lifespan for people with Fanconi Anaemia is between 20 and 30 years.

Also see: Anaemia