Fanconi Anemia

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Fanconi Anemia Facts

Fanconi anemia (FA) is a rare, inherited blood disorder that causes the bone marrow to stop making enough new blood cells. It also causes the bone marrow to make abnormal blood cells, which can lead to serious health problems, such as cancer.

FA can affect many of your body's organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. People with FA are at higher risk for some cancers and other serious health problems, such as aplastic anemia. As an inherited disease, children should be tested if one of their brothers or sisters has the disease. 

Symptoms  

Fanconi anemia usually is diagnosed in children before they are 12 years old, although a diagnosis in adults is also possible. People with FA are usually smaller in stature, but not always. If they have low blood counts, they may feel extreme fatigue and have frequent infections.  Easy bruising may be a first sign of the disease. Blood tests may reveal a low white cell, red cell, or platelet count or other abnormalities. Sometimes myelodysplasia, acute myeloid leukemia, or squamous cell carcinoma is the first sign of FA.

Other symptoms include:

  • Anemia 
  • Bone marrow failure 
  • Birth defects in the bones, eyes, ears, skin, kidneys, heart and other organ systems 
  • Developmental or eating problems 
  • Low birth weight 
  • Poor appetite or other digestive problems
  • Slower growth than other children 
  • Lower than normal height 
  • Small head size 
  • Mental retardation or learning disabilities

Some FA patients have a growth hormone deficiency that can be treated with growth hormones. Others may develop hypothyroidism, abnormal glucose tolerance, and diabetes mellitus. An endocrine evaluation will help determine if treatable causes are responsible for poor growth as well.

Diagnosis
 

Patients with FA show blood complications in the first 10 years of life. The definitive test for Fanconi Anemia is a chromosome breakage test. In the laboratory, the patient's blood cells are treated with a chemical that cross-links DNA. Normal cells are able to correct most of the damage and are not severely affected. FA cells show marked chromosome breakage. These tests can be performed prenatally on cells from chorionic villi or from the amniotic fluid.

Since many FA patients show no overt signs of their disease, FA should be considered in patients with aplastic anemia , even if no other defects are present. 

Genetics

To date, at least 13 Fanconi anemia genes (described as “complementation groups”) have been identified in FA patients and a mutation in any one of those 13 genes leads to the disease Fanconi anemia. The complementation groups have been assigned letter designations, (A, B, C, D1, D2, E, F, G, I, J, L and M), but mutations in the A, C, and G complementation groups comprise more than 75 percent of patients diagnosed with FA.