Fanconi anemia

What is Fanconi anemia?

Fanconi anemia (FA) is a rare, inherited blood disorder. Children with FA almost always develop to aplastic anemia (bone marrow failure) and may have an increased risk of developing cancer.

Is Fanconi anemia common?

FA is a rare disorder that occurs in about 1 in every 360,000 children born in the United States. It occurs equally in boys and girls, and has been identified in all ethnic groups.

Causes

What causes Fanconi anemia?

FA is an inherited disorder, passed from parents to their child through defects in one of at least 14 different genes can cause FA. The proteins normally produced from these genes help detect and repair damaged DNA in blood stem cells and other cells of the body. In FA, DNA repair is abnormal, leading to a buildup of damaged DNA in the bone marrow, causing it to fail.

When both parents carry a defect in the same FA gene, each of their children has a 25 percent chance of getting this abnormal gene from both parents. If a child gets both defective genes, he or she is born with FA.

Symptoms

What are the symptoms of Fanconi anemia?

While your child may experience a variety of symptoms, the most common symptoms of FA are:

• extreme tiredness
• frequent infections
• easy bruising
• nose or gum bleeding
• low red, white or platelet blood cells or blood counts

About 75 percent of children with FA also have one or more of the following physical characteristics:

• light brown birthmarks (called café-au-lait spots) or areas without any pigmentation (called ash leaf spots)

• short stature

• thumb and arm abnormalities (missing, misshapen or extra thumbs, a thumb bone not attached to the hand bone, or an underdeveloped or missing forearm bone)

• low birth weight

• small eyes

• abnormalities of the kidneys, genitals, gastrointestinal tract, heart and central nervous system

• abnormal middle ear bones  or ear canals leading to poor hearing

Certain forms of cancer also tend to develop at a young age and may come back after treatment in people with FA. They include:

• leukemia
• head and neck cancer (mouth, tongue and throat)
• gynecologic cancers (particularly labial, ano-genital and cervical cancer)
• gastrointestinal cancers (especially liver cancer)
• brain tumors

Some of the symptoms of FA may resemble other blood disorders or medical problems, some of which are very common and easy to treat. Also, the list above includes common symptoms of the disease, but does not list all possible symptoms. It is important to be evaluated by a physician to obtain an accurate diagnosis. Always consult your child's physician if you have concerns.

Will my child be OK?

Fanconi anemia is a very serious genetic condition, and your child will that requires life-long care from trained specialists, including careful monitoring to prevent and treat complications of the disease. With a diagnosis of FA comes an increase in certain risks, including those of can increase the risk of bone marrow failure, leukemia and certain types of tumors. Your child’s physician is available to answer questions about your child’s condition, prognosis and available treatment options.