Fanconi Anemia

What is Fanconi anemia?

Fanconi anemia (FA) is an inherited bone marrow failure syndrome that usually affects all blood cell lineages although the first manifestation may be a low platelet count and large red blood cells (macrocytosis).

Fanconi anemia symptoms may include:

  • Low platelet count and macrocytosis, with an eventual reduction of all blood cell counts (pancytopenia).
  • Developmental anomalies
  • Anomalies of the thumbs
  • Malformation of the bones in the forearm
  • Birth marks on the skin
  • Short stature
  • Anomalies of the reproductive organs
  • Kidney problems
  • Low weight at birth
  • Heart abnormalities

Children with Fanconi anemia are at risk for myelodysplastic syndrome (MDS) and acute leukemia, as well as cancer of the mouth and throat.

The cells of children with FA typically have fragile chromosomes. A chromosomal breakage study demonstrating the increased specific chromosome fragility is used to help diagnose this rare condition.

Changes in FA genes disrupt DNA repair.

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