Fanconi anemia is a blood disorder in which the bone marrow doesn't make enough blood cells or makes abnormal types of blood cells.
Bone marrow is the spongy material inside bones that produces white and red blood cells and platelets. Red blood cells carry oxygen through the body, and white blood cells help fight infection; platelets help with clotting. All these cells die after a certain amount of time and constantly need to be replaced.
Fanconi anemia is a genetic condition. That means it runs in families—it is passed from generation to generation. Most people with Fanconi anemia are diagnosed between ages 2 and 15 years old. People who have this form of anemia may only live for 20 to 30 years. But, medical advances are making better treatment possible.
Having Fanconi anemia increases the risk for certain types of cancer, such as leukemia. As children with this type of anemia grow into adults, they are at increased risk for other cancers, such as tumors in the mouth or esophagus; women are at greater risk for reproductive organ cancers.
Thirteen genes have been linked to the disease. If one of your parents had Fanconi anemia, you might carry the gene and could pass it on to your children even if you don't have the condition. Two groups of people, Ashkenazi Jews and Afrikaners, have a much higher risk of developing the disorder.
These are possible signs and symptoms of Fanconi anemia:
Fanconi anemia may lead to:
Fanconi anemia usually is not diagnosed at birth, although children are born with it. A diagnosis is often made based on:
You may be advised to see a geneticist, a doctor who specializes in diseases that pass from a parent to a child through genes. The geneticist can give you specialized testing. Brothers and sisters of a child with Fanconi anemia should also be tested.
Our blood and bone marrow disease experts provide advanced transplantation procedures for children and teenagers.
Invest in future cures for some of life's most devastating diseases
Keep in touch with Children's National by signing up for our newsletters.
Allogeneic transplantation is a procedure in which a person receives hematopoietic (blood-forming) or blood stem cells, from a genetically similar, but not identical, donor.