What is Fanconi anemia?

Fanconi anemia (FA) is a rare genetic disease resulting in an impaired response to DNA damage and loss of blood-forming stem cells in the bone marrow early in life. Bone marrow failure in FA affects all blood cell lineages; sometimes, the first symptoms involve a low platelet count and large red blood cell size (macrocytosis). Occasionally, patients experience infections due to low white blood cell counts. Older patients can struggle with cancer, including cancers of the mouth and throat, and acute myelogenous leukemia. The Pediatric Comprehensive Bone Marrow Failure Center at Children’s Hospital of Philadelphia (CHOP) is actively involved in research to determine the origins of this bone marrow failure and potential gene therapy treatment. 

What are the symptoms of Fanconi anemia?

Children with FA may have:

• Abnormalities of the skin, arms, head, eyes, kidneys and/or ears
• Anomalies of the thumbs
• Malformation of the bones in the forearm
• Birth marks on the skin
• Anomalies of reproductive organs
• Kidney problems
• Short stature

How is Fanconi anemia diagnosed?

The cells of children with FA typically have fragile chromosomes, and a chromosomal breakage study remains the gold standard in diagnosing FA. If chromosomal breakage testing is positive, genetic testing for a specific type of FA is also recommended. As of 2021, there are 23 currently known genes responsible for FA. Your child’s doctor will perform a bone marrow aspirate and biopsy to confirm the diagnosis and determine any additional abnormalities suggesting myelodysplasia, an early form of leukemia. Rarely, a skin biopsy can be helpful in making the diagnosis.

How is Fanconi anemia treated?

At CHOP, patients with FA are cared for by a multidisciplinary team of experts from the Division of Hematology; Division of Gastroenterology, Hepatology, and Nutrition; Division of Endocrinology; Division of Pulmonary and Sleep Medicine; and the Neuropsychology and Assessment Service. Patients with FA may require transfusions of red blood cells or platelets to minimize the effects of anemia or bleeding on growth and wellbeing. Some patients may also respond to androgen or growth hormone therapy. Bone marrow transplantation may be recommended to cure the hematological aspects of FA.