Endothelial Dysfunction and Nitric Oxide Research is showing that sickle cell disease is not simply a disease of red blood cells but also a disease of the blood vessels and their lining, or endothelium . When sickled red blood cells come into contact with the endothelium, they cause inflammation. If the endothelium becomes inflamed, the space in which the blood has to travel becomes narrower and makes a blockage of sickled cells more likely. Nitric oxide is an important substance in the body. It helps keep blood vessels open, allowing blood to flow freely. Nitric oxide also decreases certain proteins that cause red blood cells to stick to the endothelium. Scientists have found that people with sickle cell disease have less nitric oxide than those without the condition. Researchers are looking at ways to decrease the inflammation of the endothelium and to increase the levels of nitric oxide in people with sickle cell disease. Gene Therapy In 1997, researchers figured out how to insert the gene for sickle cell disease into mice. Then in 2001, scientists had another breakthrough and were able to correct the sickle cell gene in the affected mice. Today, research continues to move toward the next extremely difficult step, which is to take that corrected gene and insert it into the DNA of a human with sickle cell disease. Patients with sickle cell disease have better access to gene therapy studies due to the positive research in this area and a better understanding of gene therapy itself. Clinical trials are now available at a few hospital centers for children and adults with sickle cell disease. However, the high cost of gene therapy may limit its availability of in the future. Ongoing studies are in place to address these issues. Genetic Factors Although every person with sickle cell disease inherits the same gene mutation, they do not all have the same symptoms and complications. People from the same part of the world and same racial background seem to have similar health problems, which is probably because of other genetic traits that impact sickle cell disease. As scientists learn more about the genetic traits associated with different complications, they will know more about predicting how an individual’s sickle cell disease might “behave.” In the future, treatment may be customized based on the genes a person has inherited along with the genes for sickle cell disease. Then, treatments such as stem cell transplant, gene therapy, and hydroxyurea therapy may be initiated before complications occur, not in response to complications occurring. Treatments such as stem cell transplant, gene therapy, and hydroxyurea therapy may then be initiated before complications occur and not because of them.
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