Can gene therapy help treat sickle cell anemia?

Sickle cell disease (SCD) is a group of genetic conditions that affect hemoglobin function. Health experts are exploring gene therapy as a potential new treatment for manipulating gene expression. With this technique, it may be possible to restore the shape of red blood cells (erythrocytes) and eliminate complications of sickle cell disease.

Sickle cell disease is a group of hereditary erythrocyte disorders that affect approximately 100,000 people in the United States of America. Currently, most treatments aim to reduce symptoms and complications. However, advances in gene therapy may offer a new therapeutic approach.

In this article we will discuss gene therapy and its potential role in the treatment of sickle cell disease.

SCD It is an inherited condition of red blood cells. A person with sickle cell disease has a genetic change in beta hemoglobin (HBB) gene It is located on chromosome 11. Hemoglobin is the iron-rich protein in red blood cells that gives them their shape and helps transport oxygen. healthy red blood cells Round and flexibleallowing them to travel through the blood vessels.

However, in people with sickle cell anemia, RBCs are hard and shaped like a “C” or sickleThis is how the condition gets its name. Because these C-shaped cells are misshapen, the body breaks them down more quickly than healthy RBCs. They can also become disrupted and cut off blood flow, which can cause pain and inflammation.

There are several types of sickle cell disease, depending on which genes are passed on by biological parents. The most common Species Include:

gene therapy Refers to a medical approach aimed at treating genetic conditions. This technology modifies gene expression to prevent genetic changes from causing disease symptoms. Various mechanisms are available and may include:

  • Replacing the disease-causing gene with a healthy copy
  • Disabling the disease-causing gene if it is not working properly
  • Introducing a new or modified gene to help treat the condition

gene therapy It aims to treat genetic diseases by providing cells with a new set of instructions to change the way they work, with the goal of correcting the condition. SCD results from modifications in HBB gene, which produces the protein beta globin. By adding a new copy of this gene, it may be possible to prevent RBCs from developing a sickle shape.

To start this treatment, doctors will first collect stem cells either from a person’s bone marrow or from a blood sample using a drug called Blerixafor. This medication helps move stem cells from the bone marrow into the bloodstream. Doctors will modify these stem cells outside the body.

Doctors then need a vector to transfer the new genetic material into the stem cells – they call this vector a vector. The carrier is usually a virus that health experts have modified to make it harmless, and instead carries the new genes. Similar to how viruses reproduce by injecting genetic material into living cells, modified viruses insert new genes into stem cells.

Before a person can receive these new stem cells, they first undergo a procedure called conditioning. Conditioning uses chemotherapy to create space in the bone marrow for new stem cells. The person will then receive an injection of blood containing the new stem cells.

Researchers are also studying a technique known as gene editing For the treatment of sickle cell disease. Gene editing works by adding, removing, or changing genetic material into a they change How do cells work? One of the main approaches to treating sickle cell disease is to encourage the production of SCD . fetal hemoglobin (HbF). This type of hemoglobin is present in the fetus but is suppressed as the child gets older. Unlike adult hemoglobin, the altered sickle cell gene does not affect hemoglobin.

Gene editing aims to stop HbF suppression by targeting a gene called BCL11A. By suppressing this gene, the body can resume production of HbF and, as a result, have healthy RBCs. This type of gene therapy involves similar steps in assembly, vector, and infusion. However, instead of delivering new genetic material, the carrier transmits a gene-editing technique called CRISPR/CAS 9 to interrupt BCL11A gene.

Although sickle cell disease will still be able to affect some red blood cells in the body after this treatment, research suggests that a 20% The level of HbF in the bloodstream can be sufficient to improve the symptoms of sickle cell anemia.

New developments in gene therapy have led to many studies and trials that have shown promising results for the potential treatment of sickle cell anemia.

a Study 2022 Investigation of the efficacy of a gene therapy for sickle cell anemia called LentiGlobin It found that the one-time treatment led to a steady increase in the uninterrupted hemoglobin in the participants’ blood. This treatment reduced hemolysis and resolved the severe events of vascular entrapment. This indicates a type of Sickle cell crisiswhere sickle-shaped RBCs block blood flow and cause serious complications.

a Study 2019 Refers to a successful trial using a modified vector to transfer a healthy HbF gene to people with sickle cell anemia. In both cases of using this technique, individuals noticed an improvement in their sickle cell disease symptoms.

Similarly, a Study 2021 Indicates a successful trial where CRISPR/Cas9 gene editing techniques successfully targeted BCL11A gene. After treatment, the individual had higher levels of HbF and no vaso-occlusive episodes.

Although research into gene therapy for sickle cell anemia continues, early trials appear to be yielding positive results. This technique can increase the level of healthy active hemoglobin and reduce severe pain crises.

The potential risks from gene therapy come from a person’s need to undergo chemotherapy beforehand to prepare their bodies for new stem cells. Possible side effects of chemotherapy may include:

  • Nausea and loss of appetite
  • hair loss
  • Increased risk of infertility
  • Increased risk of cancer

There was also cases of participants who develop leukemia and myelodysplastic syndromes after gene therapy for sickle cell anemia. However, the research is inconclusive as to whether this is caused by conditioning chemotherapy, the gene therapy itself, or because people with sickle cell anemia may be more likely to develop these cancers.

As health experts tailor gene therapy to each individual using their own cells, it is time consuming and expensive Procedure. This high cost may greatly limit its availability for many people.

Another limitation is that because research into new gene therapy techniques is still new, healthcare professionals do not fully understand the long-term effects and safety of these treatments.

The only curative treatment currently available for sickle cell anemia is a bone marrow transplant. This procedure works similarly to gene therapy, but healthy RBCs come from the bone marrow of a compatible donor.

Other treatments aim to manage symptoms, reduce the frequency of sickle cell crises, and reduce the risk of complications. Such treatments may include:

Sickle cell disease is a group of genetic conditions that affect hemoglobin. These genetic changes lead to health complications, because red blood cells do not function properly. Gene therapy is a potential curative treatment aimed at encouraging the production of healthier RBCs to relieve symptoms.

Although trials are still ongoing and the long-term effects remain unclear, promising results show the potential of gene therapy as a treatment option.

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