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Abstract
It was more than 70 years ago that Linus Pauling identified sickle cell anemia as a molecular disease associated with alteration in oxygen metabolism in the red blood cell due to the monogenetic substitution of a single amino acid in hemoglobin. It's been 50 years since he first wrote about the concept of Orthomolecular Medicine, which focuses on adjusting the physiological levels of molecules with nutrient-derived precursors (now termed nutraceuticals) to promote optimal health. We now see these concepts being applied in the nutraceutical management of sickle cell anemia using glutamate as a precursor of glutathione and other conditions associated with oxidative stress.
Nutrigenomics is a field that emerged during the first years of the 21st century. It came about when fast-paced discoveries in both genetics and nutrition intersected, and a veritable 'big bang' led to new and exciting research pursuits. The past decade has seen this field continue to evolve. The new reality is a better understanding of how to therapeutically use specific nutrients (nutraceuticals) for the management of specific metabolic conditions linked to specific genetic and epigenetic characteristics.
One very interesting example of nutraceutical therapy is the modern management of a condition that was first identified more than a century ago: monogenetic sickle cell disease. In the July 5, 2022 issue of The Journal of the American Medical Association, an article titled "Sickle Cell Disease: A Review" was published.1 Since 2017, three new drugs have been approved by the Food and Drug Administration (FDA) for the treatment of sickle cell disease. One of them is the amino acid nutraceutical L-glutamine. Studies show that glutamine, when used therapeutically, can decrease reactive oxygen species in red blood cells, thereby reducing pathology associated with sickling of the red cells. In a randomized clinical trial involving 230 patients with sickle cell trait genetics aged 5 years and older, it was found that glutamine supplementation, compared to placebo, reduced pain associated with sickle cell crisis by 25%, hospitalization by 33%, mean length of hospital stay from 11 to 7 days, and acute chest syndrome by 23%.2
To best understand the mechanism of action of glutamine in sickle cell disease, a brief review of the history and pathophysiology of this condition is necessary. In 1949, Dr. Linus...