WHAT IS FANCONI ANEMIA
Fanconi anemia (FA), named for Swiss pediatrician, Guido Fanconi, is a very rare, primarily recessive genetic 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.
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. Most patients develop bone marrow failure, necessitating a bone marrow transplant. Many patients develop acute myelogenous leukemia (AML). Patients who live into adulthood are extremely likely to develop head and neck, gynecologic, and/or gastrointestinal cancer and at a much earlier age (20s, 30s, and 40s) than the general population. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problems associated with FA still must have regular examinations to watch for signs of cancer. Many patients do not reach adulthood, although the current median lifespan is 24.7 years, with some patients living into their 30s, 40s, and 50s.
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, red cell or platelet count or other abnormalities. Sometimes myelodysplasia (MDS) or AML is the first sign of FA. On occasion, FA isn’t diagnosed until squamous cell carcinoma has been identified.
FA sometimes is evident at birth through a variety of physical defects. These may include any of the following:
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. Most patients develop bone marrow failure, necessitating a bone marrow transplant. Many patients develop acute myelogenous leukemia (AML). Patients who live into adulthood are extremely likely to develop head and neck, gynecologic, and/or gastrointestinal cancer and at a much earlier age (20s, 30s, and 40s) than the general population. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problems associated with FA still must have regular examinations to watch for signs of cancer. Many patients do not reach adulthood, although the current median lifespan is 24.7 years, with some patients living into their 30s, 40s, and 50s.
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, red cell or platelet count or other abnormalities. Sometimes myelodysplasia (MDS) or AML is the first sign of FA. On occasion, FA isn’t diagnosed until squamous cell carcinoma has been identified.
FA sometimes is evident at birth through a variety of physical defects. These may include any of the following:
- Thumb and arm anomalies: an extra or misshapen or missing thumbs and fingers or an incompletely developed or missing radius (one of the forearm bones)
- Skeletal anomalies of the hips, spine or ribs
- Kidney problems
- 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