Fanconi Anemia Health Article

Clinical trials

Growth factor therapy and gene therapy are two treatments being tested in clinical trials. Two growth factors—granulocyte/macrophage colony stimulating factor (GM-CSF) and granulocyte colony stimulating factor (G-CSF)—were shown to increase blood cell production. Patients with low neutrophil counts particularly benefit from this treatment.

A clinical trial for gene therapy of FA patients is ongoing. The normal copy of the mutated gene is introduced into the patient's own bone marrow stem cells using a viral vector. When the virus infects the stem cells, the normal FANC gene is integrated into the stem cell's DNA. This therapy will, theoretically, correct the defect in the stem cells and prevent their premature death, curing the aplastic anemia seen in FA patients. As with BMT, however, this gene therapy will not reduce the development of other cancers in FA patients.

Prevention

The only known method of prevention of this disease is prenatal diagnosis and termination of pregnancies for affected embryos. Preimplantation genetic diagnosis, where one or two cells are tested from in vitro fertilized embryos, is also available. This method avoids the need for abortion, but carries more risk.

Special concerns

Because FA can be present without any outward symptoms, it is essential that any potential sibling donor for BMT be carefully tested for the disease using white blood cell exposure to DNA damaging agents or direct examination of their FANC gene copies before the transplant.

See Also Bone marrow transplantation; Genetic testing

Resources

BOOKS

Frohnmeyer, Lynn, and Dave Frohnmeyer. Fanconi Anemia: A Handbook for Families and Their Physicians. Eugene, Oregon: Fanconi Anemia Research Fund, Inc., 2000.

PERIODICALS

de Winter, J.P., et al. "The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG." Human Molecular Genetics 9 (November 2000): 2665-74.

Garcia-Higuera, I., et al. "Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway." Molecular Cell 7 (February 2001): 249-62.

ORGANIZATIONS

Fanconi Anemia Research Fund, Inc. 1801 Willamette St., Suite 200, Eugene, OR 97401. (800) 828-4891. <www.fanconi.org>.

OTHER

Online Mendelian Inheritance in Man (OMIM). John Hopkins University, Baltimore, MD. MIM Nos. 602956, 603467, 227645, 227646, 227650. April 2001. 25 June 2001 <http://www.ncbi.nlm.nih.gov/omim/>.

Michelle Johnson, M.S., J.D.

Aplastic anemia

—A disease in which the bone marrow stops producing all three types of cells of the blood: red blood cells, white blood cells, and platelets.

Fludarabine

—A drug that inhibits a blood cell's ability to produce DNA, eliminating native cells from FA patients so they can undergo BMT.

Myelodysplastic syndrome

—A disease where the bone marrow stops producing healthy blood cells and the cells that are produced function poorly. This syndrome sometimes develops into leukemia.

Neutrophil

—A type of white blood cells important in the defense of the body against infection.

QUESTIONS TO ASK THE DOCTOR

• Which FA gene is responsible for my child's illness?
• Are growth factor or gene therapies appropriate for my child?
• When should bone marrow transplantation be considered as an appropriate treatment?