What is fanconi anemia?

Fanconi anemia is an inherited (genetic) condition that affects bone marrow. It causes a decreased number of red blood cells, white blood cells, and platelets (pancytopenia). It also often causes birth defects and certain types of cancer. The disease may also cause problems with the heart or kidneys and abnormalities of the arms and legs.

Children and adults with Fanconi anemia usually are short in height and have delayed growth. Other common problems include bleeding episodes and easy bruising, hormonal problems, and infertility.

Fanconi anemia is usually diagnosed during childhood. But sometimes people are not diagnosed until they are older if they have few signs of the disease. Treatment will depend on how the child is affected. It may include medicines to improve anemia (or help the body produce more blood cells). In some cases, blood stem cell transplants may be an option. Treatments for cancer or for birth defects may also be needed.

People with Fanconi anemia often live shorter lives due to problems caused by it. Genetic counseling can be helpful for people who have this condition and for their families.