Fanconi anemia (FA) is a rare inherited anemia that over time leads to bone marrow failure or aplastic anemia. It occurs when both parents carry a mutation, or defect, in one of several FA genes, and their child inherits the defective gene from both parents.

Approximately 31 babies are born with FA each year in the United States. Sometimes, FA may be suspected at birth by one or more of these physical traits:

  • Skin discolorations
  • Hand, arm and other skeletal anomalies
  • Kidney problems
  • Small head or eyes
  • Low birth weight
  • Gastrointestinal problems (bowel)
  • Small reproductive organs in males
  • Heart defects

Since these physical characteristics can be indicative of other conditions, and since some patients may have no obvious physical traits of FA, the condition may not be diagnosed at birth.

In fact, children with FA are most often diagnosed between the ages of 6 and 8 when they may exhibit symptoms such as:

  • Unexplained fatigue
  • Recurrent colds or viral infections
  • Recurrent nosebleeds
  • Easy bruising
  • Blood in the stool or urine
  • Shortness of breath
  • Poor growth / short stature

In rare cases, symptoms do not occur until early adulthood.