The A gene has now been isolated and sequenced. Soon mutation tests will be available for families carrying defects in the A gene, as they are now for the C gene. Many cases of FA are not diagnosed at all, or not diagnosed in a timely manner. FA should be suspected and tested for in any infant born with the thumb and arm abnormalities described above. Anyone developing aplastic anemia at any age should be tested for FA, even if no other defects are present.
Many FA patients show no other abnormalities.
It is absolutely essential to test for FA before contemplating bone marrow transplantation for aplastic anemia. The International Fanconi Anemia Registry managed by Dr. Arleen Auerbach at The Rockefeller University maintains case data on at least 3,000 patients.