Fanconi Anemia - Synopsis

Fancoini Anemia is a rare, inherited blood disorder.  Children who have this disorder may have several physical abnormalities, including light brown birthmarks, short stature, kidney or bladder abnormalities, and finger and arm deformities.  It also causes aplastic anemia (bone marrow  failure) and increased risk of developing certain types of cancer.

Defects in 12 different genes can cause FA.  It is diagnosed using the chromosome breakage, or DEB, test.

The aplastic anemia has usually been treated with bone marrow transplants.  Stem cell transplants can cure the aplastic anemia, leukemia, and predisposition to leukemia, but does not cure the cancer risk that children with FA have.