Traveling for Care?
Whether you're crossing the country or the globe, we make it easy to access world-class care at Johns Hopkins.
Fanconi anemia (FA) is a rare, inherited blood disorder that prevents the bone marrow from producing enough new blood cells for the body to function properly, or that causes the bone marrow to make faulty blood cells. FA increases the risk of some cancers or other disorders; about 10 percent of people with FA develop leukemia. People with FA who survive to adulthood are at higher risk of developing cancerous solid tumors. The average lifespan of FA patients is 20 to 30 years. However, advances in blood and stem cell transplantation have improved the chances of living longer with FA.
FA is inherited. Children born into families with a history of FA are at risk of inheriting the disorder. Although FA can occur in all racial and ethnic groups, Ashkenazi Jews (descended from the Jewish population of Eastern Europe) and Afrikaners (White natives of South Africa descended from Dutch, French and German settlers) are more likely to have FA or be FA carriers.
FA patients usually are smaller than average, may be very tired or be prone to infections. They may have frequent nosebleeds or bruise easily.
Many birth defects can be signs of FA, including:
Developmental signs of FA include:
In adults, women who have FA may have some or all of the following:
Men who have FA may have sex organs that are less developed than normal, and may be less fertile than men who don't have the disease.
Most patients are diagnosed before the age of 12; in rare cases, symptoms don’t present until adulthood. A child’s doctor may order the following tests:
Doctors may, through tests called amniocentesis or chorionic villus sampling (CVS) test the fetuses of pregnant women who have a family history of FA. These tests remove small samples of amniotic fluid or placenta tissue to test for genetic defects.
Treatments for FA may vary based on the severity of FA. They include:
Bone marrow transplants are more risky for FA patients, who are more sensitive to chemotherapy and radiation. FA patients often experience complications like an increased risk in organ toxicity and in graft-versus-host disease, and in development of glucose intolerance, with most FA patients requiring insulin therapy.
Johns Hopkins Kimmel Cancer Center scientists, directed by Scott Kern, M.D., identified three genes, long linked to FA, that appear to play a role in 10 percent or more of pancreatic cancers. The genes, BRCA2, FANCC, and FANCG, have all been associated with FA. Those affected are born with only a single normal copy of one or more of the genes. Though they do not develop FA, these people often develop pancreatic cancer, usually in their 40s and 50s, about a decade earlier than the average.
The culprit genes appear to make pancreatic cancer cells highly susceptible to treatment with two FDA-approved cancer drugs, mitomycin C and cisplatin. This research was funded by a National Cancer Institute gastrointestinal SPORE (Specialized Programs of Research Excellence) grant.
For more information, see the website for the Fanconi Anemia Research Research Fund, Inc.