Fanconi anemia has an autosomal recessive pattern of inheritance.
Pronunciation
English: /fɑːnˈkoʊni/, /fæn-/
Specialty
Hematology
Fanconi anemia (FA) is a rare, autosomal recessive, genetic disease resulting in impaired response to DNA damage in the FA/BRCA pathway. Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of normal bone marrow function and development of cancer. Among those affected, the majority develop cancer, most often acute myelogenous leukemia (AML), MDS, and liver tumors. 90% develop aplastic anemia (the inability to produce blood cells) by age 40. About 60–75% have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% have some form of endocrine problem, with varying degrees of severity. 60% of FA is FANC-A, 16q24.3, which has later onset bone marrow failure.
FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair via homologous recombination.[1] The well-known cancer susceptibility genes BRCA1 and BRCA2 are also examples of FA genes (FANCS and FANCD1 respectively), and biallelic mutation of any of the two genes usually results in an embryonically lethal outcome, and should the proband come to term, experience a severe form of Fanconi anemia.
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.[2] 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 typical age of death was 30 years in 2000.[2]
FA occurs in about one per 130,000 live births, with a higher frequency in Ashkenazi Jews and Afrikaners in South Africa.[3] The disease is named after the Swiss pediatrician who originally described this disorder, Guido Fanconi.[4][5] Some forms of Fanconi anemia, such as those of complementation group D1, N, and S, are embryonically lethal in most cases, which might account for the rare observation of these complementation groups. It should not be confused with Fanconi syndrome, a kidney disorder also named after Fanconi.
^Walden, Helen; Deans, Andrew J (April 17, 2014). "The Fanconi Anemia DNA Repair Pathway: Structural and Functional Insights into a Complex Disorder". Annu. Rev. Biophys.43: 257–278. doi:10.1146/annurev-biophys-051013-022737. PMID 24773018.
^ abSchwartz, Robert S.; d'Andrea, Alan D. (May 2010). "Susceptibility pathways in Fanconi's anemia and breast cancer". N. Engl. J. Med.362 (20): 1909–1919. doi:10.1056/NEJMra0809889. PMC 3069698. PMID 20484397.
^Rosenberg PS (2011). "How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel". American Journal of Medical Genetics Part A. 155 (8): 1877–1883. doi:10.1002/ajmg.a.34087. PMC 3140593. PMID 21739583.
^synd/61 at Who Named It?
^Fanconi, G. (1927). "Familiäre infantile perniziosaartige Anämie (perniziöses Blutbild und Konstitution)". Jahrbuch für Kinderheilkunde und physische Erziehung (Wien). 117: 257–280. (Commentary on and reprint ... doi:10.1016/B978-012448510-5.50106-0)
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