regulation of their kinase activities is important for the cell to maintain proliferative Fanconi anemia Fanconi anemia(FA) for Swiss pediatrician, Guido Fanconi, is one of the inherited anemias that leads to marrow failure(aplastic anemia). It is a recessive disorder: if both parents 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 FA There are at least seven FA genes: A, C, D2, E, F,G and BRCA2. Six of these genes have been cloned. These six account for more than 85% of the cases of fanconi anemia Mutations in FA-A and FA-C account for FA in 76% of patients worldwide 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 develop acute myelogenous leukemia(AML). Older patients are extremely likely to develop head and neck, esophogeal, gastrointestinal, vulvar and anal cancers. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problem associated with FA still must have regular examinations to watch for signs of cancer. Many patients do not reac adulthood Fanconi anemia patients are usually smaller than average. FA usually reveals itself before children are 12 years old, but in rare cases no symptoms are present until adulthood Patients may feel extreme fatigue and have frequent infections. Nosebleeds or easy bruising may be a first sign. blood tests may reveal a low white cell, red cell or platelet count or other abnormalities. Sometimes myelodysplasia or AML is the first sign of FA FA sometimes is evident at birth through a variety of physical defects. These may include any of the following Thumb and arm anomalies: misshapen, missing or extra thumbs or an incompletely developed or missing radius(one of the forearm bones) Skeletal anomalies of the hips, spine, or ribs Kidney problems, including missing or horseshoe kidney Skin discoloration(cafe-au-lait spots): portions of the body may have a suntanned Small head or eyes Mental retardation or learning disabilities Gastrointestinal difficulties Small reproductive organs in males Defects in tissues separating chambers of the heart The 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 crosslinks DNAregulation of their kinase activities is important for the cell to maintain proliferative control. “Fanconi anemia” Fanconi anemia (FA), named for Swiss pediatrician, Guido Fanconi, is one of the inherited anemias that leads to bone marrow failure (aplastic anemia). It is a recessive disorder: if both parents 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. There are at least seven FA genes: A, C, D2, E, F, G and BRCA2. Six of these genes have been cloned. These six account for more than 85% of the cases of Fanconi anemia. Mutations in FA-A and FA-C account for FA in 76% of patients worldwide. 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 develop acute myelogenous leukemia (AML). Older patients are extremely likely to develop head and neck, esophogeal, gastrointestinal, vulvar and anal cancers. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problem associated with FA still must have regular examinations to watch for signs of cancer. Many patients do not reach adulthood. Fanconi anemia patients are usually smaller than average. FA usually reveals itself before children are 12 years old, but in rare cases no symptoms are present until adulthood. Patients may feel extreme fatigue and have frequent infections. Nosebleeds or easy bruising may be a first sign. Blood tests may reveal a low white cell, red cell or platelet count or other abnormalities. Sometimes myelodysplasia or AML is the first sign of FA. FA sometimes is evident at birth through a variety of physical defects. These may include any of the following: • Thumb and arm anomalies: misshapen, missing or extra thumbs or an incompletely developed or missing radius (one of the forearm bones). • Skeletal anomalies of the hips, spine, or ribs. • Kidney problems, including missing or horseshoe kidney. • Skin discoloration (café-au-lait spots); portions of the body may have a suntanned look. • Small head or eyes. • Mental retardation or learning disabilities. • Low birth weight • Gastrointestinal difficulties. • Small reproductive organs in males. • Defects in tissues separating chambers of the heart. The 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 crosslinks DNA