Fanconi Anemia

What Is Fanconi Anemia?

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.

What Is Bone Marrow?

Bone marrow is the spongy part in the middle of our bones. It makes:

• red blood cells to carry oxygen throughout the body
• white blood cells to help fight infection
• platelets to help blood clot

What Are the Signs & Symptoms of Fanconi Anemia?

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:

• tiredness and paleness from anemia (from having too few red blood cells)
• getting a lot of infections (from low white blood cells)
• easy bruising and bleeding (from low platelets)

Signs in children with Fanconi anemia can vary. Some are there when the child is born and some develop later. They may include:

• light colored patches of skin (hypopigmentation)
• darker patches of skin (café-au-lait spots)
• problems in the bones of the forearms or thumbs
• scoliosis (curve in the spine)
• a missing or unusually shaped kidney
• digestive system problems
• heart problems
• eye and ear problems
• small genitals (in boys)
• shorter height than other children their same age
• extra fluid in and around the brain (hydrocephalus)
• a small head (microcephaly)
• learning problems

What Causes Fanconi Anemia?

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.

How Is Fanconi Anemia Diagnosed?

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:

• someone in the family has the condition
• a prenatal ultrasound shows physical changes that happen in Fanconi anemia (for example, bone changes in the forearms or thumbs or a missing or unusually shaped kidney)

Doctors who treat blood problems (hematologists) diagnose children through:

• blood tests to check levels of red blood cells, white blood cells, and platelets
• genetic tests
• bone marrow testing

How Is Fanconi Anemia Treated?

A care team works together to treat a child with Fanconi anemia. It includes specialists in:

• blood problems (hematology)
• digestive problems (gastroenterology)
• ear, nose, and throat problems (otolaryngology)
• inherited conditions (genetics) 
• bone problems (orthopedics)

Depending on a child’s medical issues, other specialists may be on the care team too.

Treatments usually include:

• IV (intravenous) transfusions of donated red blood cells and platelets
• androgen (a hormone) to increase the number of red blood cells and platelets
• medicines to increase the number of white blood cells
• antibiotics for infections

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.

How Can Parents Help?

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:

• your child’s care team
• other families who have a child with Fanconi anemia
• friends and family

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:

• Fanconi Anemia Research Fund
• Fanconi Hope