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The development of each chain is controlled at a separate genetic locus. Changes in the amino acid sequence of these chains results in abnormal hemoglobins. For example, hemoglobin S is found in sickle-cell disease, a severe type of anemia in which the red cells become sickle-shaped when oxygen is in short supply.
Medical Definition of Wilson disease. Wilson disease: An inherited disorder of copper metabolism that results in an abnormal accumulation of copper in the body. Although the accumulation of copper begins at birth, symptoms of the disorder do not appear until later in life, between the ages of 6 and 40. A diagnostic feature of the disease is a Kayser-Fleischer ring, a deep copper-colored ring around the edge of the cornea that represents copper deposits in the eye.