Three families share their experiences with Fanconi anemia and the Fanconi Anemia Research Fund. Hear the stories of Heidi & Chris Collings, Mary Ann & Tim Lana, and Matt Pearl.
Fanconi anemia (Fanconi anaemia, FA) is a very rare genetic disease with an incidence estimated at 1 per 130,000 births (or around 31 per year in the USA), with a slightly higher frequency in Ashkenazi Jews in Israel and Afrikaners in South Africa.
FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair. As a result, the majority of FA patients develop cancer, most often acute myelogenous leukemia, and 90% develop bone marrow failure (the inability to produce blood cells) by age 40. About 60–75% of FA patients have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% of FA patients have some form of endocrine problem, with varying degrees of severity. Median age of death was 30 years in 2000.
Treatment with androgens and hematopoietic (blood cell) growth factors can help bone marrow failure temporarily, but the long-term treatment is bone marrow transplant if a donor is available.
Because of the genetic defect in DNA repair, cells from people with FA are sensitive to drugs that treat cancer by DNA crosslinking, such as mitomycin C.
The disease is named after the Swiss pediatrician who originally described this disorder, Guido Fanconi. It should not be confused with Fanconi syndrome, a kidney disorder also named after Fanconi.