Fanconi anemia

What is Fanconi Anemia?

Fanconi Anemia (FA) is a rare, inherited blood disorder that leads to bone marrow failure. FA is a blood disorder, but it also can affect many other organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. People who have FA are at higher risk of some cancers and other serious health problems.

What are the signs and symptoms of Fanconi Anemia?

Physical findings can include the following: 

  • Café au lait spots (brown birth marks)
  • Short stature
  • Abnormal thumbs, often including abnormal radii (these are the bones in the lower arm, between the elbow and the wrist)
  • Abnormal male development
  • Small head
  • Small eyes
  • Abnormal kidneys

Bone marrow failure can develop. Signs and symptoms of bone marrow failure depend on the blood cell counts but include pale skin, fatigue, headaches, frequent fevers or infections, increased bruising or bleeding.

People with FA are at higher risk for cancers including Leukemia (cancer of the blood and bone marrow), Liver tumors, Solid organ cancer (specifically cancers of the 'head and neck', the female genitalia, the esophagus and the brain)

How is Fanconi Anemia diagnosed? 

  • Physical examination for associated abnormalities.
  • Blood tests including the chromosome breakage test and genetic testing or mutation analysis for genetic errors linked to FA.
  • Bone Marrow evaluation.

About treatment for Fanconi Anemia at Children’s

Children’s Cancer and Blood Disorders program achieves outcomes that rank among the top national programs and cares for more than two-thirds of Minnesota children and adolescents with blood disorders. In the program, families coping with anemia have access to the newest and most promising treatments and receive care spearheaded and coordinated by a board-certified hematologist/oncologist.

Contact us
If you are a family member looking for a Children’s hematologist or oncologist or wanting to schedule an appointment, call the outpatient clinic at Children’s – Minneapolis at (612) 813-5940

If you are a health professional looking for consultation or referral information, please call Children's Physician Access at 1-866-755-2121 (toll-free).