Fanconi Anemia

Fanconi Anemia Comprehensive Care Program

The Fanconi Anemia Comprehensive Care Program at Fairview-University Medical Center is the single largest treatment center for patients with Fanconi Anemia (FA) in the United States. The care provided is individually tailored to meet the unique needs of each patient and family. This program uses a team of expert health care providers who specialize in FA, applying leading-edge research developed by University of Minnesota scientists. 

What is Fanconi Anemia?

Fanconi Anemia is a rare, inherited disease which causes bone marrow failure. Those with FA have inherited one FA gene from their father and one from their mother. There are at least eight different genes that cause FA. Approximately 1 in 80 to 600 people carry the gene. Carriers are healthy and do not know that they carry the FA gene. If both parents are carriers, each child they have has a 25 percent chance of being affected by Fanconi Anemia. FA affects boys and girls equally.

Patients with Fanconi Anemia may have a number of medical problems. Some of the treatments available through the Fanconi Anemia Comprehensive Care Program are:

1. Surgical correction of congenital anomalies
   1. Thumb and lower arm anomalies
   2. Heart, intestinal and/or kidney problems
2. Transplantation of bone marrow
3. Hormone replacement to correct
   1. Short stature
   2. Thyroid insufficiency
   3. Diabetes
4. Cancer treatment
5. Voice reconstruction (secondary to androgens)
6. Genetic counseling for
   1. Assisted reproduction and preimplantation genetic diagnosis
   2. Prenatal testing
   3. Family testing

At Fairview-University Medical Center, we have specialists in Fanconi Anemia to address your child's needs.

Diagnostic Tests

After being diagnosed with Fanconi Anemia, extensive evaluations of the bone marrow are performed for clonal chromosomal abnormalities by experienced cytogeneticists. Diagnostic tests may also be conducted before a child is born via an amniocentesis procedure or through chorionic villus sampling performed early in the pregnancy. Genetic counseling is also available to help parents understand potential risks for Fanconi Anemia and various treatment options.

Bone Marrow Tests

Patients with Fanconi Anemia need to have a bone marrow test at least once a year to monitor for the development of myelodysplastic syndrome (MDS), leukemia or clonal cytogenetic abnormalities. If a cytogenetic abnormality is found, bone marrow examinations should be performed more frequently. Evaluations are performed by hematopathologists and cytogeneticists experienced specifically in FA. There is special interest in determing marrow changes that predict leukemia.

Our Expertise

Fairview-University Blood and Marrow Transplant (BMT) Services, affiliated with the University of Minnesota has set the standard for BMT as a treatment for Fanconi Anemia and other diseases since University of Minnesota Physicians performed the world's first successful BMT in 1968. University of Minnesota physicians have performed sibling donor transplants for FA since 1976 and unrelated donor transplants for FA since 1987.

We have treated more FA patients with BMT than any other center in North America. In 2000, we broke ground by performing the world's first cord blood transplant on a Fanconi Anemia patient using preimplantation genetic testing to ensure a perfect tissue match. As a result of this work, Fanconi Anemia patients have been referred at diagnosis or shortly thereafter to assist in the care of FA patients well in advance of BMT. Our patients are treated by a team of experts specializing in gastroenterology, nephrology, cardiology, orthopedic surgery, endocrinology, infectious diseases, nutrition, neurology, general surgery, otolaryngology and hand surgery.

Dr. John E. Wagner, Professor, University of Minnesota Medical School, and Scientific Director of Clinical Research, Blood and Marrow Transplant Program and Stem Cell Institute, and Dr. Margaret L. MacMillan, Associate Professor, University of Minnesota Medical School, are world-renowned experts in the field of BMT and Fanconi Anemia, in particular. Their research at the University of Minnesota's Stem Cell Institute involves exploring novel ways to increase cure rates and improve quality of life for patients with FA.

Treatment for Fanconi Anemia

We follow FA patients carefully, well before the onset of bone marrow failure, myelodysplastic syndrome (MDS) and leukemia. When bone marrow changes occur, patients may be initially managed with medications. However, at some point, the only treatment proven to cure the hematological abnormalities associated with FA is through hematopoietic cell transplantation (HCT) to replace the patient's abnormal stem cells with normal stem cells. Nonetheless, new treatments with and without HCT are being explored.

Hematopoietic Cell Transplantation

FA patients have unique challenges to transplantation including limits of a finding a match either through a sibling donor or unrelated stem cell donors, coupled with sensitivity to chemotherapy and radiation and a high incidence of congenital abnormalities.

The decision of when to transplant depends on various factors, including:

• peripheral blood counts
• presence of myelodysplastic syndrome or leukemia
• type of stem cell donor available
• overall health

Matched Sibling Donor HCT

Low-dose cyclophosphamide and limited field irradiation is the standard preparative therapy for patients with FA undergoing related-donor HCT. However, long-term follow-up studies have demonstrated a high risk of malignancy, particularly of the head and neck. Reported potential risk factors include the use of radiation and chronic graft-versus-host disease (GVHD). In an attempt to reduce the risk of malignancy, at the University of Minnesota we have designed new protocols which replace radiation with fludarabine and ATG and reduce the risk of GVHD by T-cell depletion. As of 2002, all patients with a matched sibling donor using a radiation-free therapy have engrafted, and none have developed any acute or chronic GVHD.

Unrelated Donor HCT

Until recently, unrelated donor transplants for FA patients had poor outcomes. University physicians have developed breakthrough protocols drastically improving survival rates. For the first time, the survival rate approaches that of matched sibling donor recipients. Recently, we have developed a new protocol to determine the lowest dose of radiation needed for successful unrelated donor transplants for FA patients.

New Directions at the University of Minnesota

University of Minnesota scientists continue researching ways to improve outcomes for FA patients. Currently, they are leading the nation in several areas of research including:

• Use of Preimplantation Genetic Diagnosis to create a healthy HLA-matched sibling donor
• Mesenchymal Stem Cell Therapy to speed immune recovery after transplantation
• Hematopoietic Stem Cell Gene Correction in Fanconi Anemia
• Immune reconstitution to reduce the risk of infection after BMT

For More Information

To receive more information about the Fanconi Anemia Comprehensive Care Program, contact the Fairview-University Blood and Marrow Transplant Services at (612)273-2800 or (888)601-0787(toll-free).

In 2000, we broke ground by performing the world's first umbilical cord blood transplant on a Fanconi Anemia patient using pre-implantation genetic testing to ensure a perfect HLA tissue match. As a result of this work, Fanconi Anemia patients have been referred at diagnosis or shortly thereafter to assist in the care of FA patients well in advance of BMT.

Click here for more detailed information on treatment for Fanconi Anemia syndrome at the University of Minnesota Amplatz Children's Hospital.