What is Fanconi anemia? Fanconi anemia (FA), named after the Swiss pediatrician Guido Fanconi, is one of the hereditary anemias that lead to bone marrow failure. Although it is primarily considered a blood disorder, it can affect all systems of the body. Many patients do not reach adulthood. Patients with AF are generally smaller than average. FA usually occurs 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 an early sign. Blood tests may reveal low numbers of white or red blood cells or platelets or other abnormalities. FA is sometimes evident at birth through a variety of physical defects. Although the total number of AF patients is not documented worldwide, scientists estimate the frequency of AF carriers to be between 1 in 600 and 1 in 100. Clinical synopsis: Thumb and arm abnormalities: deformed thumbs or missing or incomplete or missing radius (one of the forearm bones).¨ Skeletal abnormalities of the hips, spine, or ribs.¨ Skin discoloration (café-au-lait spots); parts of the body may have a tanned appearance.¨ Small head or eyes.¨ Mental retardation or learning difficulties.¨ Low birth weight.¨ Gastrointestinal difficulties.¨ Small reproductive organs in males.¨ Defects in the tissues that separate the chambers of the heart .Genetics:¨ Autosomal recessive disorder.¨ FA occurs equally in males and females.¨ FA is present in all groups ethnic.¨ 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 after the Swiss pediatrician Guido Fanconi, is one of the hereditary anemias that lead to bone marrow failure. Although it is primarily considered a blood disorder, it can affect all systems of the body. Many patients do not reach adulthood. Patients with AF are generally smaller than average. FA usually occurs 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 an early sign. Blood tests may reveal low numbers of white or red blood cells or platelets or other abnormalities. FA is sometimes evident at birth through a variety of physical defects. Although the total number of patients with AF is not documented worldwide, scientists estimate the frequency of AF carriers to be between 1 in 600 and 1 in 100.