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Inborn Errors of Metabolism

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Molecular and Cellular Mechanisms in Disease

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Abstract

Sickle-shaped red cells were first observed in a Negro patient by Herrick, a Chicago physician [1]. Instead of classifying this finding as a curiosity, he pursued his investigation and established a correlation between sickling and hemolytic anemia. When the family histories of individuals presenting such anomalies were studied, it became evident that sickle cell anemia is a hereditary disease transmitted by an autosomal dominant gene. In 1949, Pauling, Itano, Singer, and Wells, in a classic paper entitled “Sickle Cell Anemia, A Molecular Disease” [2], described different electrophoretic patterns for hemoglobin of normal individuals and hemoglobin of patients with sickle cell anemia. This was the first demonstration of a genetically controlled abnormal protein in the phenotype. This alteration in a single molecule is responsible for the complex symptomatology of sickle cell anemia.

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    Professor Julien L. Van Lancker M.D.

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Van Lancker, J.L. (1976). Inborn Errors of Metabolism. In: Molecular and Cellular Mechanisms in Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-65967-6_3

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