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

FA is an inherited disorder—that is, it's passed from parents to children through genes. If a child has FA, his or her brothers and sisters also should be tested for the disorder.

Anemia

The most common symptom of all types of anemia is fatigue (tiredness). Fatigue occurs because your body doesn't have enough red blood cells to carry oxygen to its various parts. If you have anemia, you may not have the energy to do normal activities.

A low red blood cell count also can cause shortness of breath, dizziness, headaches, coldness in your hands and feet, pale skin, and chest pain.

Bone Marrow Failure

When your bone marrow fails, it can't make enough 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 the cells to work well.

With too few white blood cells, you're at risk for infections. Infections also may last longer and be more serious than normal.

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 or purple spots on the skin. Bleeding in small blood vessels just below your skin causes these spots.

In some people who have FA, the bone marrow makes a lot of harmful, immature white blood cells called blasts. Blasts don't work like normal blood cells. As they build up, they prevent the bone marrow from making enough 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 skeletal 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. People who have FA may have a curved spine, a condition called scoliosis (sco-le-O-sis).
• Eye and ear defects. The eyes, eyelids, and ears may not have a normal shape. Children who have FA also might be born deaf.
• Skin discoloration. This includes coffee-colored areas or odd-looking patches of lighter skin.
• Kidney problems. A child who has FA 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). A VSD is a hole or defect in the lower part of the wall that separates the heart’s left and right chambers.

Developmental Problems

Other signs and symptoms of FA are related to physical and mental development. They 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 have 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. 

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