Fanconi anemia

Also known as: Fanconi’s anemia, FA

What is Fanconi anemia?

Fanconi anemia is a rare inherited disorder that results in bone marrow failure, with and without a wide spectrum of bone and other physical abnormalities. When Fanconi anemia is present, the marrow doesn’t make enough blood cells for the blood to function properly. This can cause a variety of health problems including an increased risk of some cancers.
 

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 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 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 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: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 3/21/2017 11:40:57 AM

From the Newsdesk

July Patient of the Month: Lacy
07/10/2017 — Meet our July Patient of the Month, Lacy. Lacy was only 2 years old when her parents noticed that something was wrong. They took her to various doctors to try to find what could be the cause, Lacy had an 8 cm. tumor in her brain, occupying most of the lower part of her head.
June Patient of the Month: Bi'Yanie
06/06/2017 — At a young age, Bi’Yanie was diagnosed with sickle cell, a blood disorder that causes the cells to take on a crescent or sickle shape and can lead to very painful episodes called crises. Today, Bi’Yanie is getting stronger by the day, thanks to the bone marrow transplant she received at Nicklaus Children’s Hospital.