Fanconi Anemia

Also known as: Fanconi’s anemia, FA.

What is Fanconi anemia?

Fanconi anemia is a rare inherited disorder that involves a wide spectrum of abnormalities involving bone, ears, kidneys, other physical abnormalities.

Some of the patients may develop bone marrow failure or leukemia. In addition, patients with Fanconi are at a very high risk of developing multiple cancers in their lifetime.

What causes Fanconi anemia? 

Fanconi anemia is a chromosomal/genetic disorder that is passed on from parents to their children. It affects all races however children in southern Africa and Ashkenazi Jews seem to be particularly affected.

What are the signs and symptoms of Fanconi anemia? 

The signs and symptoms depend on the organ system involved. The majority of children have at least one physical abnormality like being short and/or arm or abnormalities of other bones and/or the head/face, kidney/bladder and/or one or more abnormalities of other system.

Symptoms of Fanconi anemia can include pallor, frequent infections, problems with bleeding, fatigue, discolored skin and other serious complications, including deformed organs or the development of cancer.

What are Fanconi anemia care options? 

The only cure for the blood disease in Fanconi anemia is a stem cell transplant. Supportive treatments vary and depend on the multiple abnormalities that may be present.

Most children however will require blood products, and medications (like synthetic growth factors, androgen therapy, chemotherapy etc.). Surgery may be indicated depending on a variety of factors. Gene therapy offers hope for the future.

Reviewed by: Kamar Godder, MD

This page was last updated on: March 25, 2022 11:27 AM

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