Rare disease that leads to leukaemia

FANCONI ANAEMIA is a rare genetically inherited disease that mainly affects the bone marrow.

It results in the decreased production of all type of blood cells, including red blood cells that carry oxygen around the body and white cells that fight infection. Initial symptoms are easy bruising, shortness of breath, recurrent colds or virus infections and unexplained fatigue. It can lead to increased infections and many will go on to develop the potentially life threatening condition leukaemia.

It is diagnosed by a DNA test in which the patient’s DNA is placed in a test tube with a chemical that damages it. Bone marrow transplants are an effective treatment for this condition, although in themselves they can cause severe complications such as graft versus host disease. The best results come from tissuematched sibling donors.