What is Fanconi anemia?
Fanconi anemia (FA) is a rare and serious inherited blood disorder in which the bone marrow fails to make normal blood cells. This failure (which is an inherited aplastic anemia) means that the bone marrow does not make enough of any or all of three types of blood cells—red blood cells (to carry oxygen), white blood cells (to fight infection) and platelets (to help blood clot). FA affects children and is rare, affecting one in 100,000 births.
What are the signs and symptoms of FA?
FA is usually diagnosed before age 12 with symptoms due to anemia or bleeding. About twothird of children with FA have other physical defects such as short stature, small head, misshapen, missing or extra thumbs or fingers, curved spine, ear and eye defects, kidney or testes problems, skin patches, stomach and heart defects. FA can also cause the bone marrow to make faulty blood cells which leads to acute myeloid leukemia (AML), a blood cancer.
How is FA treated?
FA is a genetic disorder with no cure except for bone marrow transplantation (BMT). Treatment is based on how low or abnormal the blood counts are and the age of the patient.