How Gene Therapy is Being Applied to Sickle Cell Disease


Grajevis Bakatunkanda lived in the Democratic Republic of the Congo, where he received treatment for malaria after experiencing weekly pain crisis. The treatment he received did not work, as he had been incorrectly diagnosed. Until he moved to South Africa, Grajevis was unaware that real cause of his symptoms was sickle cell disease. While the diagnosis was helpful, the treatments at the time of his diagnosis in 2003 were unhelpful, and they were not developed for sickle cell disease specifically. Now there have been great advances in the medical world to treat sickle cell disease, with one of these advances being gene therapy.

About Sickle Cell Disease

Sickle cell disease is an umbrella term for a group of disorders, with the most common, severe, and well-known form being sickle cell anemia. People with this disease have misshapen red blood cells, deformed so that they resemble a sickle. These blood cells get caught along the walls of blood vessels, creating blockages and and restricting blood flow.

The protein hemoglobin is responsible for this disorder. It is meant to carry oxygen throughout the body. A mutated gene does not correctly produce hemoglobin, which results in the misshapen blood cells. This condition is recessive, meaning that both parents must pass down the mutated gene. Sickle cell disease is much more likely to be present in those of African descent, and it also disproportionately affects those of Hispanic descent.

Symptoms of sickle cell disease are pain crisis, swelling of the hands and feet, fatigue, jaundice, and delayed growth. While children usually only feel these symptoms during a pain crisis, adults will constantly experience the effects of the disease. In both age groups, damage can occur to the organs that are affected by the restricted blood flow. The most commonly affected organs are the spleen, liver, kidneys, brain, eyes, skin, joints, bones, lungs, and heart.

As of now, the only cure for sickle cell disease is a bone marrow transplant. But because not everybody with this disease qualifies for a transplant, it is not a complete cure. Other treatments are symptomatic and meant to prolong life.

Grajevis Bakatunkanda’s Story

As a child, Grajevis lived in the Democratic Republic of the Congo, where he experienced pain crisis and other symptoms common in sickle cell disease. The nearby hospital diagnosed him with malaria and treated him accordingly, which did nothing to relieve his pain. It was not until he moved to South Africa that he was correctly diagnosed. At the time of his diagnosis in 2003, there were no treatments available that were meant to target sickle cell disease specifically. All of the medications prescribed were meant to deal with the symptoms. Fortunately there have been many advances in treatment since then. Gene therapy is a development that has been used to treat various diseases, and it is now in development for sickle cell disease. His pain crises have lessened with age, but he still experiences the symptoms of sickle cell disease. He hopes that the criticisms and issues with gene therapy will be overcome someday, so that this treatment will be widely available and safe.

The Issues with Gene Therapy

The cost of this therapy is something that could make it inaccessible to many places across the world, and sickle cell disease is prevalent in many of these places. Sub-Saharan Africa, the Caribbean, and India are all places in which people are more likely to have this disease, and they are also places in which many people would be unable to afford the hefty cost of gene therapy. Organizations like the U.S. National Institute of Health and the Bill and Melinda Gates Foundation have helped to make gene therapy available to more people, as they have promised to donate $200 million.

Another common criticism that comes with gene therapy is the unknown side effects. In 1999 one of the first gene therapy trials was conducted, and a side effect of the treatment was leukemia. This study has marred the reputation of gene therapy.

New Developments in Gene Therapy

Despite the problems and criticisms, there have been many recent advances in gene therapy. The FDA has approved gene therapy treatments for other conditions, and many companies are working to develop treatments for sickle cell disease. Techniques include producing the β-globin gene, which is resistant to sickling. Another method is introducing fetal hemoglobin to the body, as it works just as well as the adult version and does not cause blockages. A similar technique includes shutting off the mechanism that halts the production of this fetal hemoglobin.

While these treatments are still in the development stage and are very costly, researchers, doctors, and those with sickle cell disease are hopeful for the outcomes.

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