Fanconi anemia (FA) was first reported by Guido Fanconi, a Swiss pediatrician, in 1927. Because FA is an autosomal recessive disorder that leads to bone marrow failure, both parents must carry the recessive gene for the child to have the disorder. People with FA do not produce a protein necessary for cell functioning; as the cells die and are not reproduced, the individual develops aplastic anemia. Because FA is a recessive gene disorder, after a sibling is diagnosed with FA, all siblings should be tested for FA.
A rare inherited disease that causes abnormally low numbers of certain blood cells accompanied by underdeveloped or missing thumbs, short stature, and mental and sexual retardation. A child with Fanconi anemia displays symptoms between 18 months and 10 years of age. An abnormally low number of platelets makes the child bruise easily and bleed from the skin and the mucous membranes, such as those of the nose and the gums. Red and white blood cell counts are also low, making the child pale, fatigued, and subject to infection. Patches of the skin may turn brown and discolored from deposits of the skin pigment melanin.