Fanconi Anemia

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What is Fanconi anemia ?

Fanconi anemia (FA), named for Swiss pediatrician , Guido Fanconi, is one of the inherited anemias that lead to bone marrow failure. Though considered primarily a blood disease, it may affect all systems of the body. Many patients do not reach adulthood.
FA patients are usually smaller than average. FA usually revels itself when children are between the ages of 3 and 12, but in rare cases no symptoms are present until adulthood. Nosebleeds or easy bruising may be a first sign. Blood tests may reveal a low white or red cell or platelet count or other abnormalities. FA sometimes is evident at birth through a variety of physical defects.
While the total number of FA patients is not documented worldwide, scientists estimate that the carrier frequency for FA is somewhere between 1 in 600 and 1 in 100.
Clinical synopsis:
¨ Thumb and arm anomalies: misshapen or missing thumbs or an incompletely developed or missing radius (one of the forearm bones).
¨ Skeletal anomalies of the hips, spine, or ribs.
¨ Skin discoloration (cafe-au-lait spots); portions 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 organs in males.
¨ Defects in tissues separating chambers of the heart.

Genetics:
¨ Autosomal recessive disorder.
¨ FA occurs equally in males and females.
¨ FA is found in all ethnic groups.
¨ There are at least 5 FA genes (A,B,C,D,E), and there is evidence for as many as 8.

What is Fanconi anemia ?

Fanconi anemia (FA), named for Swiss pediatrician , Guido Fanconi, is one of the inherited anemias that lead to bone marrow failure. Though considered primarily a blood disease, it may affect all systems of the body. Many patients do not reach adulthood.
FA patients are usually smaller than average. FA usually revels itself when children are between the ages of 3 and 12, but in rare cases no symptoms are present until adulthood. Nosebleeds or easy bruising may be a first sign. Blood tests may reveal a low white or red cell or platelet count or other abnormalities. FA sometimes is evident at birth through a variety of physical defects.
While the total number of FA patients is not documented worldwide, scientists estimate that the carrier frequency for FA is somewhere between 1 in 600 and 1 in 100.

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