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.