Is Stem Cell Transplant a Viable Treatment for Beta Thalassemia?

Beta thalassemia is a type of genetic blood disorder characterized by the mutations in the genes of beta globin; one of the two major proteins required for hemoglobin production in the body. Depending on the nature and severity of these mutations, beta thalassemia either lowers the production of hemoglobin or completely stops it.

A healthy hemoglobin molecule contains two beta globin protein chains. The severity of beta thalassemia depends on both the number of mutated genes and the number of mutations. In general, however, the condition with one faulty gene is called beta thalassemia minor, and the condition where both the beta genes are mutated is called beta thalassemia major. The symptoms of thalassemia major can be moderate or severe, depending on the level of mutations.

How Is Beta Thalassemia Treated?

Mild forms of beta thalassemia produce little to no symptoms and do not cause any complications. In most cases, people with beta thalassemia minor live a healthy life with little to no treatment.

Moderate and severe forms of beta thalassemia need regular treatment. The following two standard treatments are used for them:

i. Blood Transfusion

ii. Iron Chelation Therapy

When treated for moderate or severe beta thalassemia, with any of these methods, patients are often given folic acid supplements to promote the production of healthy red blood cells in the body.

While these treatments can reduce the symptoms and help increase the lifespan of thalassemia patients, they cannot cure the disease.

How Can Beta Thalassemia Be Cured, Then?

Stem cell transplant is the only available treatment that can cure beta thalassemia.

A stem cell transplant is a surgical procedure that involves the infusion of healthy stem cells, taken from a donor, into the patient’s body. These stem cells then travel to the bone marrow, replace the faulty or damaged stem cells, and initiate the production of new, healthy blood cells and bone marrow.

Due to its mechanism of working, stem cell transplant is also often referred to as the bone marrow transplant.

Why Stem Cell Transplant Isn’t Used for All Beta Thalassemia Patients?

Stem cell transplant is the only available treatment that can cure beta thalassemia. However, it isn’t a viable treatment method for everyone because the process is intense, risky, and above all, it requires a donor; a person with the similar genetic makeup of stem cells as yours.

Finding a donor often becomes a major struggle for people whose siblings’ genetic makeup doesn’t match. Also, the transplant’s success with the cells of unrelated donors isn’t well established in thalassemia treatment. Many thalassemia patients that otherwise make good candidates for the transplant cannot go for it due to the unavailability of ideal donors.

The second reason why stem cell transplant isn’t a prevalent treatment for beta thalassemia is that it requires the patient to go through chemotherapy before transplanting healthy stem cells. The purpose of chemotherapy is to remove faulty or damaged stem cells from the patient’s body, so the bone marrow can accept the new ones. Chemotherapy is an intense process. It causes a range of severe side effects, which often become unbearable and can even be fatal.

Stem cell transplant also puts the patient at the risk of organ damage. People that already have some organ damage or poorly functioning organ(s) can even experience organ failure due to the transplant. The transplant also puts you at the risk of developing “Graft Versus Hot Disease (GVHD)” – a condition in which your immune system starts to attack the new cells by considering them as foreign bodies. While certain medicines prevent or stop GVHD, they work by curbing your immune system, which then makes you susceptible to developing infections and other health problems. Stem cell transplant can also affect the fertility of both men and women.

The Sum Up

Even though stem cell transplant offers a cure for beta thalassemia, it isn’t widely recommended due to the intensity of the procedure, its limitations (with regards to donors), side effects, and the complications it can potentially cause. However, researchers and healthcare experts are continuously working to improve the available treatments and develop new ones. One of the undergoing research studies is trying to discover a way to trigger or continue the production of fetal hemoglobin. Fetal hemoglobin is found in fetuses and newborns and does not contain beta globin. However, our body naturally switches from making fetal hemoglobin to adult hemoglobin within a few months after birth. If researchers can find a way to keep the body making fetal hemoglobin, the development of beta thalassemia can be prevented.

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