Fanconi anemia is an inherited condition in which bone marrow doesn’t work as it should. It usually causes certain physical signs, such as light or dark skin patches or abnormal thumbs. People with Fanconi anemia also have a higher risk for some types of cancer. Treatment can help the bone marrow work better.
Bone marrow is the spongy part in the middle of our bones. It makes:
In children who have Fanconi anemia, the bone marrow usually stops working before age 10. But sometimes this doesn’t happen until adulthood.
Symptoms of the bone marrow not working include:
Signs in children with Fanconi anemia can vary. Some are there when the child is born and some develop later. They may include:
Fanconi anemia is caused by a gene change (mutation). Most children with the condition inherited the gene change from both their mother and father.
Talking to a genetic counselor can help families understand how Fanconi anemia runs in families.
Fanconi anemia can be diagnosed before birth by doing genetic tests on the fetus (unborn baby). These tests are done through amniocentesis or chorionic villi sampling. Doctors might do these tests if:
Doctors who treat blood problems (hematologists) diagnose children through:
A care team works together to treat a child with Fanconi anemia. It includes specialists in:
Depending on a child’s medical issues, other specialists may be on the care team too.
Treatments usually include:
Other treatments may be needed for medical problems such as scoliosis, digestive issues, or cancer.
A stem cell transplant can cure Fanconi anemia. But it is a serious procedure with many risks and it won’t benefit everyone with Fanconi anemia. Doctors and scientist are working to develop gene therapies and other treatments to help people with Fanconi anemia.
A child with Fanconi anemia needs lifelong medical care. Better treatments have improved the lives of people with the condition. Parents can help kids live their healthiest life by making sure they get regular medical care and treatment.
If your child has Fanconi anemia, it can be a challenge for your family to manage the medical care and the thoughts and feelings that come with the illness. Find support through:
Focus on your child’s opportunities, not limitations. And manage your own stress by taking care of yourself and doing things that you enjoy.
Include siblings of the child with Fanconi anemia. Show them that they can have a role, such as keeping their sibling company during transfusions or just being there to listen.
You also can find support and more information about Fanconi anemia online at:
Reviewed by: Eric S. Sandler, MD
Date Reviewed: Aug 10, 2022
