Fanconi Anemia

Fanconi anemia (FA) is a genetic disease with an incidence of 1 per 350,000 births, with a higher frequency in Ashkenazi Jews 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 cross-linking, 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.

Read more about Fanconi Anemia:  Genetic Prevalence, Treatment, Prognosis, Hematological Abnormalities, Molecular Basis of FA

Other articles related to "fanconi anemia":

FANCI - Function
... The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also ... Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage ... The members of the Fanconi anemia complementation group do not share sequence similarity they are related by their assembly into a common nuclear protein complex ...
FANCB
... Fanconi anemia group B protein is a protein that in humans is encoded by the FANCB gene ... The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and FANCL ... Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA ...
Fanconi Anemia, Complementation Group C - Interactions
... Fanconi anemia, complementation group C has been shown to interact with STAT1, ZBTB32, GSTP1, Cdk1, SPTAN1, HSPA1A, FANCF, FANCA and FANCE ...