Fanconi's anemia Health Article

Definition

Fanconi's anemia is disease passed down through families (inherited) that mainly affects the bone marrow. It results in decreased production of all types of blood cells.

Fanconi's anemia is different from Fanconi syndrome, a rare kidney disorder.

Alternative Names

Anemia - Fanconi's

Causes, incidence, and risk factors

Fanconi's anemia is due to an abnormal gene that prevents cells from fixing damaged DNA or removing cell damaging substances called oxygen-free radicals.

To inherit Fanconi's anemia, a person must get one copy of the abnormal gene from each parent.

The condition is usually diagnosed in children between 2 and 15 years old.

Symptoms

Person's with Fanconi's anemia have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot).

Not enough white blood cells can lead to infections. A lack of red blood cells may result in fatigue (anemia).

A lower-than-normal amount of platelets may lead to excess bleeding.

Most people with Fanconi's anemia have these types of symptoms:

• Abnormal heart, lungs, and digestive tract
• Bone problems (especially the hips, spine or ribs, can causes a curved spine (scoliosis)
• Changes in the color of the skin, such as:
  • Darkened areas of the skin
  • Vitiligo
• Deafness due to abnormal ears
• Eye or eyelid problems
• Kidney(s) that did not form correctly
• Problems with the arms and hands, such as:
  • Missing, extra or misshapen thumbs
  • Problems of the hands and the bone in the lower arm
  • Small or missing bone in the forearm
• Short height
• Small head
• Small testicles and genital changes

Other possible symptoms:

• Failure to thrive
• Learning disability
• Low birth weight
• Mental retardation

Signs and tests

Common tests for Fanconi's anemia include:

• Bone marrow biopsy
• Complete blood count (CBC)
• Developmental tests
• Drugs added to a blood sample to check for damage to chromosomes
• Hand x-ray and other imaging studies (CT scan, MRI)
• Hearing test
• HLA tissue typing (to find matching bone-marrow donors)
• Ultrasound of the kidneys

Pregnant women may haveamniocentesis or chorionic villous sampling to diagnose the condition in their unborn child.