At this point, blood tests may reveal a low white, red, or platelet cell count or a combination of deficiencies. However, Fanconi anemia may also be evident at birth through a variety of physical defects. The severity of the disorder often escalates over time. Patients may experience chronic infection, bruising and bleeding episodes, and frequent hospitalization. While the total number of FA patients is not documented worldwide, research to date indicates that FA patients may be found in any country.
Fanconi anemia is seriously under- or misdiagnosed.
Scientists best estimate statistically that the carrier frequency for FA is 1 in 100-600 for the general population. The International Fanconi Anemia Registry managed by Dr. Arleen Auerbach at The Rockefeller University maintains case data on over 3,000 patients. Study of Fanconi anemia brings insight to the study of leukemia and cancer. People with Fanconi anemia often develop leukemia and cancer. The blasts can proliferate rapidly and crowd out other healthy and more mature blood cells needed for effective functioning of the patient's body.