Evolutionary Implications of Sickle-Cell Disease

Source: Urry, Lisa A.. Campbell Biology (p. 286). Pearson Education. Kindle Edition.

Campbell Biology

The most common inherited disorder among people of African descent is sickle-cell disease, which affects one out of 400 African-Americans. Sickle-cell disease is caused by the substitution of a single amino acid in the hemoglobin protein of red blood cells; in homozygous individuals, all hemoglobin is of the sickle-cell (abnormal) variety. When the oxygen content of an affected individual’s blood is low (at high altitudes or under physical stress, for instance), the sickle-cell hemoglobin proteins aggregate into long fibers that deform the red cells into a sickle shape. Sickled cells may clump and clog small blood vessels, often leading to other symptoms throughout the body, including physical weakness, pain, organ damage, and even stroke and paralysis. Regular blood transfusions can ward off brain damage in children with sickle-cell disease, and new drugs can help prevent or treat other problems. There is currently no widely available cure, but the disease is the target of ongoing gene therapy research.

Although two sickle-cell alleles are necessary for an individual to manifest full-blown sickle-cell disease and thus the condition is considered a recessive one, the presence of one sickle-cell allele can affect the phenotype. Thus, at the organismal level, the normal allele is incompletely dominant to the sickle-cell allele. At the molecular level, the two alleles are codominant; both normal and abnormal (sickle-cell) hemoglobins are made in heterozygotes (carriers), who are said to have sickle-cell trait. (Here the word “trait” is used to distinguish this condition from full-blown sickle-cell disease, thus it is used differently from its definition earlier in the chapter—any variant of a phenotypic character.) Heterozygotes are usually healthy but may suffer some symptoms during long periods of reduced blood oxygen.

About one out of ten African-Americans have sickle-cell trait, an unusually high frequency of heterozygotes for an allele with severe detrimental effects in homozygotes. Why haven’t evolutionary processes resulted in the disappearance of the allele among this population? One explanation is that having a single copy of the sickle-cell allele reduces the frequency and severity of malaria attacks, especially among young children. The malaria parasite spends part of its life cycle in red blood cells, and the presence of even heterozygous amounts of sickle-cell hemoglobin results in lower parasite densities and hence reduced malaria symptoms. Thus, in tropical Africa, where infection with the malaria parasite is common, the sickle-cell allele confers an advantage to heterozygotes even though it is harmful in the homozygous state. The relatively high frequency of African-Americans with sickle-cell trait is a vestige of their African ancestry.

Source:

Urry, Lisa A.. Campbell Biology (p. 286). Pearson Education. Kindle Edition.

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