This is the fifth part of our series about the condition based on our patient booklet “Fast Facts for Patients: Beta Thalassemia”. This article gives an overview of the treatment options for beta thalassemia (BT).

BT is complex and needs specialist care. Your treatment should be managed at a specialist center for blood disorders and overseen by a doctor with experience in these diseases.

Specialist centers will often have a thalassemia clinical nurse specialist who you can contact if you have any queries when you’re at home. Some centers also have psychologists and social workers who are familiar with the issues that BT can cause.

The two main treatments for BT are:

• blood transfusions to combat anemia and associated complications
• chelation therapy to control iron overload.

You may also receive:

• treatment for complications, such as an enlarged spleen and gallstones
• medication to improve the production of red blood cells
• stem cell transplant – an intensive treatment that is a potential cure for BT.

What treatment you have will depend on a number of things, including whether your BT is transfusion dependent or non-transfusion dependent.

Non-Transfusion-Dependent Beta Thalassemia

You won’t need regular blood transfusions if your bone marrow is making enough Hb for you to have a good quality of life and a low risk of disease-related complications. But this can change with time. As you get older, you may need to have transfusions more often. With any added physical stress, such as infection or pregnancy, you are also more likely to need a top-up of red blood cells from a transfusion.

Iron can build up in your body even if you don’t have regular transfusions. Your doctor will monitor your iron levels and treat any overload as necessary.

Transfusion-Dependent Beta Thalassemia

If your BT is transfusion dependent, you need lifelong treatment with blood transfusions to correct serious anemia and prevent disease-related complications. You will also need chelation therapy to keep your iron levels within safe limits. Having this treatment regularly is vital for preventing complications and ensuring normal growth, development and lifespan.

If your spleen becomes enlarged and hyperactive, your doctor may suggest removing it. But they will try to avoid surgery if at all possible. There are important long-term side effects associated with removing your spleen.

Stem cell transplant is now a possible cure for BT. But it is very intensive treatment and is only considered for BT major.

Blood Transfusions

Blood transfusions top up your levels of normal healthy Hb. How often you need blood transfusions will depend on your Hb level. Your doctors will want to keep this high enough to:

• prevent severe anemia
• allow normal growth and development
• prevent the bone changes associated with BT.

If you have transfusion-dependent BT, you may need blood as often as every 2–4 weeks. The number of units of blood you will need depends on your body size. Your Hb level is a better guide for your treatment than the time since your last transfusion.

The blood you receive is carefully matched specifically for you, so that you don’t have a reaction to the donor’s red cells.

Chelation Therapy

As explained in the iron overload section, iron can build up in your body if you have BT. Too much iron is toxic so you will need iron chelation therapy to remove it.

Your doctor will monitor your iron levels with regular blood tests. If your levels seem high, you may have an MRI scan to measure the iron concentration in your heart and liver. This will show whether you need to start chelation therapy.

If you have regular transfusions for your BT, you’ll need to start iron chelation therapy after you’ve had 10–20 units of blood. It is very important for your health to follow your doctor’s instructions about iron chelation therapy.

Your doctor will prescribe an iron chelating medicine for you. There are three different drugs available for chelation therapy. Two of them are available as oral medication and can be taken daily by mouth. One is a daily injection under the skin or it can be given through a drip (intravenous infusion or IVI). Sometimes, doctors prescribe two iron chelators in combination.

Stem Cell Transplant

There is now a potential cure for BT, called stem cell transplant (SCT). This is intensive treatment that isn’t available everywhere. Your doctor will carefully consider the decision to undertake SCT as the procedure has side effects, some of which can be life threatening. In the past SCT was reserved for younger children with BT. Today, young adults whose BT is well controlled are also considered for transplant.

Stem cells are cells in the bone marrow that are capable of developing into all the different types of blood cell, including red cells. In a transplant, the stem cells in your bone marrow are destroyed to make room for healthy cells from a donor. The donor has to be someone whose blood cells closely match yours, and this is usually a close family member. If you do not have a family member whose blood cells match yours, it is possible to search for an appropriate donor in bone marrow donor registries. Your doctor will need to find someone who is not related to you, but whose cells are a close match for yours.

The aim of SCT is that the donor stem cells will start to grow inside your bones and provide new blood stem cells to replace yours. This process is called ‘engraftment’. The new stem cells will be able to make all the different types of blood cells you need, including healthy red cells.

The chemotherapy you have as part of your transplant increases your risk of infection. You will need to be nursed in complete isolation for some time after having your stem cell infusion. Other side effects of SCT include hair loss, sore mouth, sickness, diarrhea, bruising, bleeding and infertility.

For some months after the procedure, you will need to take drugs to lower the activity of your immune system (this is called ‘immunosuppression’). This reduces the risk of your own cells attacking the ones from your donor. Doctors call this ‘rejection’.

Stimulating the Production of Red Blood Cells

A medicine called luspatercept has been approved in Europe, the USA, Australia and many other countries, to treat adults with transfusion-dependent BT.

Luspatercept helps red blood cells to develop better in the bone marrow and so reduces the need for transfusions in BT. Some patients who were previously transfusion dependent may even be able to manage without further blood transfusions.

You have luspatercept as a small injection under the skin (subcutaneously) every 3 weeks. Some people have side effects, including headache and bone pain. Your doctor will be able to tell you if luspatercept is available and whether it is suitable for you.

Luspatercept is now being investigated in clinical trials to see if it can help with non-transfusion-dependent BT and to see if it can be used in children.

Information based on Fast Facts for Patients: Beta Thalassemia (Karger, 2023).