Fanconi Anemia (FA): Bone Marrow Failure

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Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that generally leads to bone marrow failure. While it is rare, only effecting less than 2% of the world's population is more commonly seen in South Africa. It is named after the Swiss pediatrician who first published information after clinical observations in 1927. FA is the result of a genetic defect in a cluster of proteins responsible for the DNA repair. As a result, the majority of FA patients develop cancer, most often acute myelogenous leukemia and around 90% develop bone marrow failure by the age of 40. About 60–75% of FA patients are plagued with congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Also around 75% of FA patients have some form of endocrine problem, with varying degrees of severity. Life expectancy for someone with Fanconi's Anemia is approximately 22 years.

Fanconi anemia is thought to originate from a colony in South Africa. FA is primarily an autosomal recessive genetic disorder, which means that two mutated alleles (one from each parent) are required to cause the disease . There is a 25% risk that each subsequent child will have FA. About 2% of FA cases are X-linked recessive, which means that if the mother carries one mutated Fanconi anemia allele there is a 50% chance that male offspring will present with Fanconi anemia.

Fanconi anemia was first described by Guido Fanconi.

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