Gene therapy with Hemoglobinopathies

posted Feb 25, 2021, 8:04 AM by Laurel Palli ‎(2023)‎

Throughout the past years, there has been much innovation across the medical field. Gene therapy, an experimental technique that treats patients by introducing genetic material to cells that have abnormal or missing genetic material, is an area where there has been immense improvement. Today scientists have been focusing on gene therapy with the production of Hemoglobinopathies. Hemoglobinopathies are genetic disorders that affect the structure or production of the hemoglobin molecule, which is a red protein that is responsible for moving oxygen in the bloodstream. This is an issue because without functional hemoglobin molecules the oxygen cannot be properly throughout the body, this can lead to many different issues such as fatigue, pain, infection, and possibly death.

The most common Hemoglobinopathies include sickle cell disease and thalassemia, two very fatal diseases. Sickle cell is an inherited disease in which the red blood cells are not healthy enough and are shaped incorrectly so they can not carry oxygen in the bloodstream. Currently, the only cure is a blood and bone marrow transplant from a Human Leukocyte Antigen matched sibling. However, few people are eligible for the course of treatment. Thalassemia is an inherited blood disease distinguished by less hemoglobin and fewer red blood cells in the body than normal. However, there is no real cure. In severe cases, thalassemia is controlled through many blood transfusions. In milder cases, a vitamin B supplement, called folic acid, is prescribed, along with additional therapies.

Through gene therapy people suffering from sickle cell disease and thalassemia are given functional copies of a modified form of the beta-globin gene in the patient's hematopoietic stem cell, allowing the patients to make functional hemoglobin molecules. Thus giving patients the possibility of creating functional red blood cells. There are multiple ongoing trials that have been showing positive results and some of which have earned breakthrough designation from the FDA as a treatment. These trials are nearing the ultimate goal of approved gene therapy to cure these chronic blood disorders.

The technology and application of gene therapy have come a long way over the past few years. Today doctors will inject the patients with the vector can be injected or deposited through an IV directly into a specific tissue in the body, where it is taken up by individual cells. Alternately, a sample of the patient's cells can be extracted and exposed to the vector in a laboratory setting. The cells containing the vector are then returned to the patient. If the treatment is successful, the new gene delivered by the vector will make a functioning protein