Fanconi anemia

Fanconi anemia (FA) is a rare, inherited blood disorder. Children with the disorder may have several physical abnormalities in addition to bone marrow failure and an increased risk of developing cancer. FA almost always leads to aplastic anemia (bone marrow failure). FA is a severe lifelong condition that requires ongoing medical treatment. If your child has been diagnosed with FA, here are some important things you should know:

• Fanconi anemia is usually discovered when a child is newborn to age 15; however there have been cases of FA first recognized in adults.
• Defects in at least 12 different genes can cause FA.
• Many children with FA also have specific physical abnormalities such as light brown birthmarks, short stature, kidney or bladder abnormalities and thumb and arm deformities.
• The bone marrow failure associated with FA may require treatments such as androgen therapy.
• Certain forms of cancer also tend to develop at a young age and may come back after treatment in people with FA.
• FA is diagnosed using the chromosome breakage, or DEB, test.
• Stem cell transplant can cure the aplastic anemia, leukemia and predisposition to leukemia, but does not cure the cancer risk that children with FA have.

How Children’s Hospital Boston approaches Fanconi anemia

Experts in our Fanconi Anemia and Bone Marrow Failure Multidisciplinary Clinic provide compassionate and patient and family-centered care to young patients with FA and bone marrow failure syndromes.

• Two experienced pediatric hematologists, Colin Sieff, MB.BCh, and David A. Williams, MD, oversee the Clinic.
• Our team includes doctors from other departments within the hospital, each of whom is familiar with the implications of FA in their specialty area.
• Our research is focused on better molecular understanding, diagnosis and treatment of Fanconi anemia.
• We offer multiple clinical trials for FA patients.
• We work as part of one team with the Pediatric Stem Cell Transplant Program at Dana-Farber/Children’s Hospital Cancer Center. This team is familiar with and has experience doing stem cell transplants in children with FA.