PerspectiveMedicine

Treating sickle cell anemia

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Science  13 Mar 2020:
Vol. 367, Issue 6483, pp. 1198-1199
DOI: 10.1126/science.aba3827

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Summary

Sickle cell anemia is an inherited disorder caused by a point mutation (affecting a single nucleotide) in the gene that encodes the β-globin chain of hemoglobin (Hbβ). Two β-globin chains and two α-globin chains form hemoglobin, the multisubunit protein in red blood cells that carries oxygen. The mutation results in the replacement of negatively charged glutamate by a neutral, hydrophobic valine that produces sticky patches on the protein surface. Upon delivering oxygen to the tissues, the mutant hemoglobin (HbS) polymerizes into fibers, which distort (“sickle”) red blood cells and cause blockage of the circulation, resulting in acute, severe pain called a sickle cell crisis. Pauling and colleagues reported the molecular basis of sickle cell anemia in 1949, giving birth to the field of molecular medicine (1). Research on sickle cell anemia has again taken center stage because of new drug therapies, cures through stem cell transplantation, and the promise of gene therapy.

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