Fanconi's anaemia

Fanconi's anaemia
an autosomal recessive disorder characterized by severe aplastic anaemia (failure of the bone marrow to produce blood cells, either red or white) and an increased predisposition to malignancy. It also causes mental retardation, poor growth, skeletal abnormalities, and kidneys of an unusual shape or in an unusual position. The condition is due to a defect in one of a group of genes known as Fanconi's anaemia (FA) genes. Children are usually diagnosed between five and ten years of age. The only treatment available is haemopoietic stem cell transplantation; without this, most affected individuals die by the age of 30 from bone marrow failure or leukaemia.
G. Fanconi (1892-1979), Swiss paediatrician

Medical dictionary. 2011.

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