Fanconi Anemia (FA)

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

  • Low platelet count and macrocytosis, with an eventual reduction of all blood cell counts (pancytopenia).
  • Developmental anomalies

Anomalies of the thumbs and malformation of the bones in the forearm can be seen in patients with FA. They may also have birth marks on the skin, short stature, anomalies of the reproductive organs, kidney problems, low weight at birth and heart abnormalities. Patients with FA are at risk for myelodysplastic syndrome (MDS) and acute leukemia as well cancer of the mouth and throat.

The cells from patients with FA typically have fragile chromosomes. A chromosomal breakage study demonstrating the increased specific chromosome fragility is used for the diagnosis of FA. Changes in one of the 15 known FA genes may be responsible for the increased fragility and for the disease in the patient. These genes yield proteins that are involved in DNA repair.