• symptoms and signs

• laboratory findings

• about the disease

• prevention

• treatment

• prognosis

Symptoms & signs.  Nose bleeds or easy bruising maybe a first sign; extreme fatigue; frequent infections; thumb and arm anomalies, misshapen or missing thumbs or an incompletely developed or missing radius (one of the forearms bones); skeletal anomalies of the hips, spine, or ribs; kidney problems; skin discoloration (café au-lait spots); portion of the body may have a suntanned look; small head or eyes; mental retardation or learning disabilities; low birth weight; gastro intestinal difficulties; small reproductive organ in males; defects in tissues separating chambers of the heart.

Laboratory findings.  A low white or red cells or platelet count

About the disease.  Fanconi anemia (FA), is one of the inherited anemia that leads to the bone marrow failure (aplastic anemia). It is a recessive disorder, if both parent carry a defect (mutation) in the same FA gene, each of their children has a 25% chance of inheriting the defective gene from both parents. When this happens, the child will have FA. FA occurs equally in males and females. It is found in all ethnic groups. Though considered primarily a blood disease, it may affect all systems of the body. Many patients eventually developed acute myelogenous leukemia (AML). Older patient may develop other cancers. Many patients do not reach adult period. Fanconi anemia patients are usually smaller than average. FA usually reveals itself when children are between the ages 3 and 12, but in rare cases no symptoms are present until adulthood. FA sometimes is evident at birth through a variety of physical defects. The only definitive test for FA at the present time is a chromosome breakage test some of the patient’s blood cells are treated, in a test tube, with a chemical that cross links DNA. Normal cells are able to correct most of the damage, and are not severely affected, whereas FA cells show marked chromosome breakage. There are two chemicals commonly used for this test, DEB (diepoxybutane) and MMC (mitomycin C). These tests can be performed prenatally on cells from chorionic villi or from the amniotic fluid. Another test is available for selected families. There are at least five FA genes (A,B,C,D, and E), and there is evidence for as many as eight. A defect in any one of these genes causes FA. The C gene has been isolated and sequenced, and several specific mutations have been identified. Mutations in the C gene account for about 15% of FA cases worldwide. Among Ashkenazi Jews, mutations in the C gene account for nearly all cases of FA. A rapid DNA test is available to identify mutations in the C gene. This test can be performed as part of a genetic screening (for instance, for Tay-Sachs disease). Or it can be performed on members of any family known to carry a mutation in the C gene. This test can be performed on a single cell, and can be performed on a single cell from an embryo before implantation, defects in the A gene account for most cases of FA worldwide. The A gene has now been isolated and sequenced. Soon mutation tests will be available for families carrying defects in the A gene, as they are now for the C gene. Mental retardation or learning disabilities; low birth weight; gastro-intestinal difficulties; small reproductive organs in males; defects in tissues separating chambers of the heart.

Prevention.  no known preventive measures

Treatment.  Chemotherapy

Prognosis.  Poor