What Are the Signs and Symptoms of Fanconi Anemia?

Major Signs and Symptoms

Your doctor may suspect you or your child has Fanconi anemia (FA) if you have signs and symptoms of:

• Anemia
• Bone marrow failure
• Birth defects
• Developmental or eating problems

Because FA is an inherited disorder, children may be tested if one of their brothers or sisters has FA.

Anemia

If you have anemia, you have a lower than normal number of healthy red blood cells. This means that your blood isn't able to get enough oxygen to your body's cells.

The most common symptom of anemia is fatigue (feeling tired or weak). If you have anemia, it may seem hard to find the energy to do normal activities.

Other symptoms include shortness of breath, dizziness, headache, coldness in the hands and feet, pale skin, and chest pain.

Bone Marrow Failure

When your bone marrow fails, it can't make enough of the three types of blood cells that your body needs to work normally: red blood cells, white blood cells, and platelets. This can cause many problems that have various signs and symptoms.

With too few red blood cells, you can develop anemia. In FA, the size of your red blood cells also can be much larger than normal. This makes it harder for these cells to work well.

With too few white blood cells, you're at risk for infections. Infections may last longer and be more serious than in people who don't have FA.

With too few platelets, you may bleed and bruise easily, suffer from internal bleeding, or have petechiae (pe-TEE-kee-ay). Petechiae are tiny red spots caused by bleeding in small blood vessels just below your skin.

In some people who have FA, the bone marrow makes a lot of harmful, immature white blood cells called blasts. These blasts don't work like normal blood cells. As they build up in the bone marrow, they block the production of normal blood cells.

A large number of blasts in the bone marrow can lead to a type of blood cancer called acute myeloid leukemia (AML).

Birth Defects

Many birth defects can be signs of FA. These include:

• Bone or skeleton defects. FA can cause missing, oddly shaped, or three or more thumbs. Arm bones, hips, legs, hands, and toes may not form fully or normally. The spine may be curved, a condition called scoliosis (sco-le-O-sis).
• Eye and ear defects. The eyes, eyelids, and ears may not be normally shaped. A child also may be born deaf.
• Skin discoloration. This includes coffee-colored areas or odd-looking patches of lighter skin.
• Kidney problems. A child might be born with a missing kidney or kidneys that aren't shaped normally.
• Congenital heart defects. The most common congenital heart defect linked to FA is a ventricular septal defect (VSD). VSD is a condition in which the wall that separates the heart's lower chambers (the ventricles) is deformed or has a hole in it.

Developmental Problems

Other signs and symptoms of FA are related to physical and mental development. These include:

• Low birth weight
• Poor appetite
• Delayed growth
• Below-average height
• Small head size
• Mental retardation or learning disabilities

Signs and Symptoms of Fanconi Anemia in Adults

Some signs and symptoms of FA may develop as you or your child gets older. Women who have FA may experience some or all of the following:

• Sex organs that are less developed than normal
• Menstruating later than women who don't have FA
• Starting menopause earlier than women who don't have FA
• Problems getting pregnant and carrying a pregnancy to full term

Men who have FA may have sex organs that are less developed than normal. They also may be less fertile than men who don't have the disease.