Gene Editing Technology for Sickle Cell Disease Treatment

By Lou Portero - Last Updated: March 28, 2022

Medical practitioners describe sickle cell as an inherited hemoglobin disorder that causes red blood cells to become sickle-shaped. These blood cells can rupture and block small blood vessels, subsequently leading to a shortage of oxygen in body tissues. This disease can cause serious pain and damage to vital organs such as kidneys, lungs, heart, and liver.

Beta-thalassemia is another blood disorder but unlike sickle cell, it reduces the production of hemoglobin i.e., the iron-containing protein responsible for moving oxygen to cells throughout the body. Consequently, patients with Beta-thalassemia suffer a lack of oxygen in the body’s vital parts.

Research published in the New England Journal of Medicine revealed the efficiency of the CRISPR-associated protein 9 (CRISPR-Cas9) Gene Editing procedure for the treatment of Sickle Cell disease and Beta-thalassemia. The researchers explained that the gene-editing modified the DNA of stem cells by deleting B-cell lymphoma/leukemia-11A (BCL11A), the gene responsible for reducing the production of fetal hemoglobin. By using this procedure, the patients’ stem cells can start producing fetal hemoglobin to overcome the effect of the abnormal hemoglobin that causes the diseases.

This procedure is beneficial because it uses a patient’s cells without the need for a donor. Moreover, the gene manipulation does not involve the use of a viral vector but is done with electroporation i.e., quick production of pores into the cells using high voltage.

The treatment of the first case was published in a recent article co-authored by Dr. Damiano Rondelli, a Micheal Reese Professor of Hematology at the University of Illinois College of Medicine. The article reported that two patients were cured of sickle cell disease and Beta-thalassemia after undergoing the CRISPR-Cas9 gene editing. Thereafter, the two researchers who developed the technology were awarded the Nobel Prize in Chemistry in 2020.

Dr. Damiano Rondelli announced that the University of Illinois College (UIC) and University of Illinois (UI) Health were perfect places for stem cell transplants. He further claimed that over 75% of sickle cell patients can be cured with a stem cell transplant. Moreover, over 50 cases have been successful. Although a full match donor is still the first line of treatment, finding a matching stem cell donor is quite difficult.

However, cells of the same patient may be modified and transferred without fear of graft-versus-host disease. Researchers predict this treatment to be a major development in world health care. Dr. Rondelli hopes that the treatment will be available in low-middle-income countries, particularly in Africa, the Middle East, and India.

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