Fanconi Anemia | Symptoms & Causes

What are the symptoms of Fanconi anemia?

The most common symptoms of Fanconi anemia (FA) are:

  • extreme tiredness
  • frequent infections
  • easy bruising
  • nose or gum bleeding

These symptoms are due to low numbers or red blood cells, white blood cells or platelets. About 75% of children with FA have one or more of the following physical characteristics:

  • café au lait spots (light brown birth marks)
  • short stature
  • thumb and arm abnormalities (missing, misshapen, or extra thumbs or an incompletely developed/missing forearm bone)
  • low birth weight
  • small head or eyes
  • abnormalities of the kidneys, genitals, gastrointestinal tract, heart, and central nervous system.

Sometimes leukemia or myelodysplasia is the first sign of FA. Children with FA may only have a few of the clinical features or none at all.

What causes FA?

FA is a genetic disease. 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 both of these affected genes are inherited, the child has FA. Carriers of the genetic defect (for example, the parents) do not have the disease.