Fanconi Anemia

What is Fanconi anemia?

Fanconi anemia is a rare and serious 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.

Fanconi anemia is a type of aplastic anemia — a condition that causes the blood to have a lower than normal number of blood cells. In Fanconi anemia, the bone marrow does not make enough or stops making all three types of blood cells—red blood cells (to carry oxygen), white blood cells (to fight infection) and platelets (to help blood clot).

Although Fanconi anemia is a blood disorder, it can also affect many of the body’s other organs, tissues and systems. Children who inherit Fanconi anemia are at higher risk for birth defects and for developing certain cancers and other serious health conditions.

Fanconi anemia is different than Fanconi syndrome, a condition that affects the kidneys.

How common is Fanconi anemia?

Fanconi anemia mostly affects children. In the United States, the likelihood of a child being born with Fanconi anemia is about one in 130,000 births. About 31 babies are born with the disease each year. About one in every 181 people in the United States is a carrier of Fanconi anemia.

Fanconi anemia occurs in all racial and ethnic groups and affects males and females equally. Two ethnic groups—Ashkenazi Jews and Afrikaners—are more likely to have or be carriers of Fanconi anemia.

What are the signs and symptoms of Fanconi anemia?

Fanconi anemia usually reveals itself before age 12. Early signs and symptoms may include the following:

• Extreme fatigue
• Shortness of breath
• Pale skin
• Feeling dizzy
• Headaches
• Chest pain
• Frequent infections
• Easy bruising
• Nosebleeds

About 60 percent of children with Fanconi anemia are born with at least one of the following:

• Smaller-than-average body size
• Below-average height
• Delayed growth
• Small head size
• Extra, misshapen or missing thumbs or fingers
• Underdeveloped or missing forearm bone
• Hips, legs, hands and toes not formed fully or normally
• Curved spine (scoliosis)
• Ear and eye defects
• Deafness
• Kidney problems
• Darker or lighter colored skin patches
• Low birth weight
• Poor appetite
• Internal bleeding
• Gastrointestinal problems (stomach and intestines)
• Small reproductive organs in males
• Congenital heart defects (present from birth)
• Learning disabilities (problems) or mental retardation

How is Fanconi anemia treated?

Fanconi anemia is a genetic disorder with no cure. Treatment is based on how low or abnormal the blood counts are and the age of the patient.

Treating Fanconi anemia can include both short-term and long-term strategies:

• Short-term—to monitor the disease and control symptoms.
  • Regular blood-count checks
  • A yearly bone marrow test
  • Screening for tumors and cancer
  • Antibiotic treatment as needed (to fight infections)
  • Blood transfusion as needed (to increase blood cell count)
• Long-term—to improve quality of life and extend lifespan.
  • Blood and bone marrow stem cell transplant—In this procedure, blood stems cells are taken from a healthy donor (often a family member) to replace the abnormal stem cells. The unhealthy bone marrow cells of the person with Fanconi anemia are destroyed using radiation and/or chemotherapy. Healthy stem cells from the donor are then infused through a vein and will travel to the bone, where they can grow and produce normal bone marrow and blood cells. Stem cell transplant is the current standard treatment for Fanconi anemia that is causing major bone marrow failure.
  • Growth factors—are natural or man-made growth substances that help the body make more red and white blood cells. Research on using growth factors to stimulate bone marrow cells for treating aplastic anemia and Fanconi anemia is ongoing.
  • Androgen therapy—uses man-made male hormones to help the body make more red blood cells and platelets for long periods. This therapy does not work as well for increasing the white blood cell count.
  • Surgery—will correct birth defects caused by Fanconi anemia. For example, children with the disorder who have digestive problems or heart or bone abnormalities (problems) may need surgery to repair problems that affect nutrition, growth and survival. For some young patients who have these problems, their doctor may want to test for Fanconi anemia.
  • Gene therapy—is being studied by researchers looking for ways to replace the defective genes involved in Fanconi anemia with normal, healthy ones. It is hoped that these genes will make proteins that can repair and protect bone marrow cells.
  • Genetic testing and counseling—can benefit families, because Fanconi anemia is an inherited disorder (passed down through families).

What are the survival rates for Fanconi anemia?

Bone marrow failure, leukemia and cancerous solid tumors are the most common causes of death related to Fanconi anemia. About 10 percent of people with Fanconi anemia develop leukemia. Between the ages of 5 and 15, the most common cancer diagnoses for a child with Fanconi anemia are acute myeloid leukemia and myelodysplasia.

Children who have Fanconi anemia and survive to adulthood are much more likely than others to develop cancerous solid tumors. The risk of solid tumors increases as people with Fanconi anemia get older.

Women who have Fanconi anemia are at much higher risk of developing tumors in their reproductive organs than are women without Fanconi anemia.

Because the extent of Fanconi anemia varies, the average lifespan for people with the disorder is between 20 and 30 years old. But some patients live into their 30s, 40s and 50s. About 80 percent of people who have Fanconi anemia live to age 18 or older.

Treatment advances have improved the survival rates of people with Fanconi anemia. Blood and bone marrow stem cell transplant is an effective treatment. However, risks still remain for some types of blood cancer and solid tumors after stem cell transplant.

Why choose St. Jude for your child’s Fanconi anemia treatment?

• The St. Jude mission is to treat and cure catastrophic diseases of childhood. Children with Fanconi anemia are provided comprehensive, state-of-the-art care and access to promising new treatments.
• Genetic testing and counseling for Fanconi anemia will be offered to patients and their families.
• The nurse-to-patient ratio at St. Jude is unmatched—averaging 1:3 in hematology and oncology, and 1:1 in the Intensive Care Unit.
• The hospital’s major treatment programs are so successful because the doctors and laboratory scientists work closely together to quickly develop new therapies.
• Our Hematology program works with local doctors to arrange lifelong monitoring and disease follow-up of patients with Fanconi anemia.
• St. Jude doctors are engaged in the latest research studies on Fanconi anemia, and patients are offered the choice to take part. By performing these studies, we hope to better understand and treat this disease.