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Anemia, Fanconi

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Definition

A rare, inherited disease that adversely affects all the elements of bone marrow and is associated with malformations of the heart, kidney, and limbs, as well as pigmentary changes of the skin. Fanconi anemia predisposes a person to cancer, particularly to a disturbance of bone marrow growth called myelodysplasia and to acute myeloid leukemia. Patients also tend to develop cancers in areas of the body where cells normally reproduce rapidly, such as the mouth, the esophagus, the intestinal and urinary tracts, and the reproductive organs. Fanconi anemia is most common in Ashkenazi Jews. Mutations in multiple different genes can cause the disease, which is inherited as an autosomal recessive trait.


 

 

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