Thalassemia Treatment

November 22, 2024

This page was reviewed under our medical and editorial policy by YunZu (Michele) Wang, M.D., assistant professor, Department of Pediatrics, City of Hope^® Cancer Center Duarte

There are several different ways to treat thalassemia. The treatment a patient receives depends on which type of thalassemia he or she has and how severe the condition is. Although people with mild thalassemia may experience no thalassemia symptoms and require no treatment, others may need lifelong treatment to manage this rare genetic blood disorder.

Who Treats Thalassemia?

The patient’s care team may consist of the following experts:

• Hematologists, who are experts in treating disorders of the blood
• Geneticists, who help with genetic evaluations of thalassemia traits
• Pathologists, who evaluate blood samples as part of the diagnosis and management process
• Specialized pharmacies, which supply medications that are difficult to find elsewhere, often for hard-to-treat conditions
• Supportive medicine providers, who manage thalassemia- and treatment-related side effects and symptoms

How Is Thalassemia Treated?

Blood transfusions are the most common treatment for moderate and severe forms of thalassemia. Transfusions can cause a buildup of iron in the blood, which may also need to be addressed with iron chelation therapy. Other treatment options include medications, advanced gene therapy or blood stem cell and bone marrow transplantation.

Blood Transfusion

Thalassemia is a genetic disorder that prevents the body from producing enough hemoglobin to effectively transport oxygen through the bloodstream. Many people receive blood transfusions as a treatment for thalassemia. Transfused blood includes red blood cells with normal amounts of hemoglobin, helping the patient’s body maintain healthy hemoglobin levels.

• Blood transfusions every three to four weeks may be recommended for more severe types of thalassemia, such as beta thalassemia major (also called Cooley’s anemia).
• Occasional blood transfusions may be appropriate for people with moderate forms of thalassemia, such as hemoglobin H disease or beta thalassemia intermedia, especially if they are also experiencing other health issues.

Chelation Therapy

Hemoglobin is a protein that contains a lot of iron. Because high iron levels can cause potentially life-threatening health problems, patients who undergo regular blood transfusions may have to take medications to manage their iron levels. This is called iron chelation therapy. Common chelation therapy medications include:

• Deferasirox, which is the most common chelation therapy and is taken by mouth
• Deferiprone, which is taken by mouth
• Deferoxamine, which is an injectable liquid usually delivered by a pump placed under the skin, though it’s less frequently prescribed and can cause more serious side effects

Bone Marrow Transplant

In some cases, doctors may recommend a blood stem cell or bone marrow transplant (also called a hematopoietic stem cell transplant) to treat or potentially cure thalassemia.

During a stem cell transplant, a person’s unhealthy stem cells are replaced with healthy ones from a stem cell donor, who is usually a sibling. The procedure involves these steps:

• Prior to the transplant, the patient receives radiation therapy or chemotherapy that “conditions” the bone marrow to make space for donor blood cells.
• The donor receives a medicine that stimulates the production of more healthy stem cells.
• The care team then collects the healthy donor stem cells and transfuses them into the patient’s blood.
• The donor stem cells travel to the “space” in the patient’s bone marrow, where they can begin to produce healthy red blood cells.

Gene Therapy for Transfusion-dependent Thalassemia

Advanced gene therapy is another treatment option for certain types of thalassemia.

So far, the U.S. Food and Drug Administration has approved two gene therapies that have been shown to reduce or eliminate the need for blood transfusions for patients with beta thalassemia major:

• Exagamglogene autotemcel (Casgevy®) works by editing a person’s genetic code to make their stem cells produce more healthy red blood cells.
• Betibeglogene autotemcel, or beti-cel (Zynteglo®), is a single-dose therapy that replaces the defective or missing hemoglobin gene with a functional one.

Gene therapy for thalassemia involves steps that are similar to that of the bone marrow transplant process, including using a drug (typically chemotherapy) for conditioning.

Other Medications and Therapies

The care team may recommend other medications and treatment options to help treat thalassemia and its symptoms, depending on which type of thalassemia the patient has and how severe it is. These include:

• Luspatercept (Reblozyl®), a drug that can help reduce the frequency of or need for blood transfusions
• A splenectomy, which may be used to remove the spleen if it becomes enlarged
• Gallbladder surgery to remove any gallstones caused by thalassemia
• Medicines to improve and maintain bone strength
• Thyroid hormone therapy, which can treat thyroid gland issues

• Antibiotics, vaccines and other standard-of-care treatments to help prevent infections

   

Thalassemia Treatment at City of Hope

Scientists at City of Hope are constantly evaluating new options and improving the efficacy of existing thalassemia therapies to develop more powerful treatments for the disease. Talk to your care team to pinpoint the right thalassemia treatment for you.