Fanconi anemia is a rare inherited blood disorder that leads to bone marrow failure. It prevents bone marrow from making enough new blood cells for the body to work properly. Fanconi anemia can also cause bone marrow to make faulty blood cells. This can lead to serious health problems such as leukemia, a type of blood cancer. Although Fanconi anemia is a blood disorder, it can also affect many of the body’s other organs, tissues and systems.
Fanconi anemia usually appears before age 12. Early signs and symptoms can include:
Easily tired
Shortness of breath
Pale skin
Feeling dizzy
Headaches
Chest pain
Frequent infections
Easy bruising
Nosebleeds
Many children with Fanconi anemia are born with at least one of the following:
Smaller-than average body size
Below-average weight
Delayed growth
Small head size
Extra or missing thumbs or fingers
Hips, legs, hands and toes not formed fully
Ear and eye defects
Your child’s doctor will ask questions about their medical history and do a physical examination. The following tests will also be completed:
Chromosome breakage test: This treats white blood cells or sometimes skin cells with certain chemicals to see how the chromosomes in these cells react.
Mutation screening: Mutation screening looks for abnormalities in specific genes that are responsible for Fanconi anemia.
These treatment options include:
Regular blood-count checks
Yearly bone marrow test
Screenings for tumors and cancer
Antibiotic treatment as needed for infections
Blood transfusion
Long-term treatment includes:
Growth factors to help the body make more red and white blood cells.
Androgen therapy to help the body make more red blood cells and platelets.
Fighting pediatric cancer and blood disorders
UW Carbone Cancer Center specialists offer the most advanced treatment options. Our pediatric cancer and blood disorder experts are national research leaders. We test new therapies and continue to work on therapies for pediatric cancer and blood disorders. For many children with rare or hard-to-treat conditions, clinical trials provide new options.
Receiving care from the UW Health Kids | Carbone Cancer Center hematology, oncology and bone marrow transplant program at American Family Children’s Hospital means you have access to the knowledge and skills of many medical and support specialists for your child’s complex health diagnosis like cancer.
Your child’s team will include:
Oncologists (cancer doctors)
Hematologists (blood disease doctors)
Nurse practitioners
Child Life specialists
Pain management specialists
Physical, occupational and speech therapists
Radiologists and radiation technologists
Social workers
When your child needs hospitalization, they will be admitted to American Family Children's Hospital in Madison, Wis.
Child life specialists help your child and family cope with any fears and anxieties. The American Family Children's Hospital Patient and Family Visitor Guide features information about:
Hero beads
Hospital school
Positive Image Center
Restoring Hope Transplant House (for blood and bone marrow transplant recipients)
Spiritual care services
Tyler's Place (sibling child care)