Arzt misst den Blutdruck eines Patienten

Treating beta thalassaemia

How is beta thalassaemia treated?

The therapies used for beta thalassaemia depend on many individual factors.

Based on your needs and wishes, your treatment team will put together the best possible treatment for you. It is important to note that there are always several paths to a goal and that there is no one-size-fits-all treatment for beta thalassaemia. Optimum treatment depends on your individual symptoms and circumstances. Do you have questions about your treatment? Talk to your doctor. If you are looking for a beta thalassaemia specialist, a patient organisation can help you to find doctors near you.

The following are possible ways to treat beta thalassaemia, either alone or in combination:

Gaia, Betroffene mit Beta-Thalassämie major, im Gespräch

Gaia, a patient with beta thalassaemia major, from Italy

    People with transfusion-dependent beta thalassaemia (beta thalassaemia major) need regular blood transfusions, while people with non-transfusion-dependent beta thalassaemia (beta thalassaemia major) can have blood transfusions more infrequently, at irregular intervals or even on an as-needed basis.1 The aim of these blood transfusions is to provide an effective and reliable supply of enough red blood cells and to minimise the burden of beta thalassaemia on patients in their everyday lives.1

    In healthy people, the bone marrow can supply enough red blood cells because it is constantly forming new blood cells. The natural breakdown and new formation of blood cells makes sure that the amount of cells stays on an even keel. This does not work in people with beta thalassaemia. For them, a sufficient and tolerable amount of healthy red blood cells (haemoglobin [Hb] value of 13-14 g/dL after the infusion2) is ensured by way of transfusions.

    The Hb (haemoglobin) value is a parameter that can be measured using a blood test. It provides information on how many red blood cells were present at the time the blood sample was taken. 

    You shouldn't have too much blood in your body at once, as this is also bad for you.

    After the transfusion, the body starts to use the red blood cells up and the Hb value falls. A new transfusion is usually planned for beta thalassaemia patients when their Hb value falls below 9-10 g/dL.2

    Red blood cells have a life span of around 120 days.

    People with beta thalassaemia form too few new red blood cells, and those that are formed are often unstable and don't work as well. This means that less oxygen is transported around the body than in healthy people and that the organs don't receive enough oxygen. This is called anaemia, and it results in affected people feeling lethargic and constantly tired – but it can even lead to heart problems, for example.3 In the case of beta thalassaemia, blood transfusions are vital.2 However, regular blood transfusions have the side effect of causing treatment-related iron overload in the body, as each transfusion supplies more iron bound in the red blood cells.1

    The blood transfusions themselves take place under supervision in specialist medical centres. Before the transfusion, the blood to be transfused naturally undergoes quality control. In addition, the recipient of the blood must have certain tests to make sure that the blood is suitable and to prevent alloimmunisation. This is because not all blood is made equal. There are substances called "markers", which can differ from person to person. Blood groups are an example of such markers. Everybody should receive donor blood only if its markers are compatible with their own blood , to avoid alloimmunisation.

    Alloimmunisation means that the body develops defence mechanisms against structures from another individual of the same species. In the case of beta thalassaemia, this means that the body tries to fight against the donor blood in the transfusion. This is called an unintended transfusion reaction. 

    Receiving regular blood transfusions means spending a lot of time in hospital. Hospital visits are annoying, but unfortunately cannot be avoided – for transfusion-dependent beta thalassaemia, regular blood transfusions are a necessary part of treatment. Stay positive and talk about your experiences with other patients. Check out a patient organisation online. You may be able to find tips for making hospital visits a more positive experience.

     
     
     
     

      There are lots of different reasons why people with transfusion-dependent or non-transfusion-dependent beta thalassaemia can develop overly high iron levels (called "iron overload"). This usually happens when more iron is taken in than the body can excrete over a prolonged period of time.1 The body needs iron to make red blood cells, for example. These stay in the body for around 120 days before they die. A healthy individual following a typical diet consumes around 10-20 mg of iron each day, of which 1-2 mg is taken up via the digestive tract. The rest is excreted straight back out, unused.4

      On average, healthy women have 3 g and healthy men 4 g of iron in their bodies.5

      • Regular blood transfusions mean that additional red blood cells containing additional iron are introduced into the body from outside, especially in people with beta thalassaemia major. Once these red blood cells die off, the free iron stays in the body and iron overload occurs. Each vital transfusion brings more iron with it. 1 This overload is called primary haemochromatosis. 6
      • People with beta thalassaemia intermedia often have secondary haemochromatosis. This means that their bodies take in more iron from food than those of healthy individuals. This is the body's reaction to anaemia6
       
      Iron chelators

      Too much iron in the body is a problem, as the body cannot excrete the excess.1 This iron builds up in organs such as the heart and liver, where it can cause damage.1 To prevent iron from building up in transfusion-dependent beta thalassaemia, your doctor will probably prescribe you a medicine which binds iron (called an iron chelator). The chelator-bound iron can then be excreted when you go to the toilet. There are different kinds of iron chelators. Some are taken as tablets, while others are received as injections or infusions.1,2 Your treatment team can decide with you which chelator is best for you.

      Of course, it is not unusual for medicines to be forgotten. Iron chelators must be taken often. It is therefore very important for you to find a way to remember to take your medicines. A reminder on your smartphone could be helpful, for example.

      If you consistently have problems remembering your medicines, talk about this with your treatment team or reach out to a patient organisation such as DEGETHA. Ask them what tips other patients have to make sure they don't forget to take their medicines.

      The aims of iron chelator therapy are1:

      • to prevent iron overload
      • to avoid increased iron levels
      • to act as rapid emergency treatment for iron-binding in the event of a heart attack
       

        Stem cell transplantation is currently the only way to improve the course of transfusion-dependent beta thalassaemia over the long term.1

        Stem cell transplantation can provide long-term relief from the symptoms of beta thalassaemia and is currently the only therapy that can cure the disease. It is not an option for all patients, as a suitable stem cell donor must always be found first. In 25-30% of cases, this donor can be found among the patient's relatives.2 Ideally, stem cell transplantation should take place during childhood, before the effects of the iron overload become more severe.1

        In stem cell transplantation, the beta thalassaemia patient receives stem cells from the bone marrow of a healthy donor. To make sure that the body accepts the foreign stem cells, it is important for the genetic profiles of the donor and recipient to be very similart7 – unfortunately, this rarely happens. With the help of the donor's stem cells, the body of the beta thalassaemia patient can then produce its own healthy red blood cells.

        Before the transplantation, several treatments are necessary. The recipient's body must be prepared for the foreign stem cells. In addition, it must be ensured that the beta thalassaemia patient will be able to benefit from the healthy red blood cells later. This preparation is called "conditioning", and it involves treatments such as chemotherapy or radiotherapy.8 Medicines must also be taken for a certain amount of time after the transplantation to prevent the body from rejecting the foreign stem cells. The aim of stem cell transplantation is for the transplant recipient to be able to produce sufficient quantities of adequately functioning red blood cells of their own despite their beta thalassaemia and for them not to need any more blood transfusions.

          An artificially produced protein can increase the number of red blood cells in adults with beta thalassaemia.

          The aim of beta thalassaemia therapy is to reduce the number of transfusion appointments and iron overload for patients and to decrease the number of transfusions needed.

            Die Geneditierung (eine Form der Gentherapie) setzt bei der Ursache der Erkrankung an – der gestörten Funktion der roten Blutzellen aufgrund eines Fehlers in einem bestimmten Gen.9 Das Ziel dieser Therapie besteht nun darin, durch die Bearbeitung (Editierung) eines Gens, dem Körper dabei zu helfen, wieder genügend funktionsfähige rote Blutzellen zu bilden.10 

            Hierzu werden der Patientin bzw. dem Patienten Zellen aus dem Blut entnommen, welche anschließend mittels einer Technologie namens CRISPR/Cas9 in einem darauf spezialisierten Labor bearbeitet werden. Nach einer Konditionierungstherapie (Chemotherapie), welche notwendig ist, um den Körper auf die Gentherapie vorzubereiten, werden diese korrigierten patienteneigenen Zellen über eine Infusion in den Körper zurückgeführt.11 

            Für Betroffene mit transfusionsabhängiger Beta-Thalassämie bietet diese Therapie zur Geneditierung die Möglichkeit, ein Leben frei von Bluttransfusionen führen zu können.10 Für die finale Therapieentscheidung ist es allerdings wichtig, die potenziellen Nebenwirkungen bzw. Risiken mit den Vorteilen dieser Behandlung abzuwägen. Besprich weitere Fragen hierzu bitte mit Deiner Ärztin bzw. Deinem Arzt.

            This is how the condition can affect someone – Kostas shares his experiences here. 

            Zwei Computer-Tabs

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              1. Farmakis D, et al. 2021 Thalassaemia International Federation Guidelines for the Management of Transfusion-dependent Thalassemia. Hemasphere. 2022; 29; 6(8): e732
              2. Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010; 5:11
              3. DeLoughery TG. Iron Deficiency Anemia. Med Clin North Am. 2017;101(2):319–332.
              4. Jankowska EA, et al. Iron deficiency and heart failure: diagnostic dilemmas and therapeutic perspectives. Eur Heart J. 2013; 34(11): 816–829.
              5. Santiago P. Ferrous versus ferric oral iron formulations for the treatment of iron deficiency: a clinical overview. Scientific World Journal 2012; 2012: 846824.
              6. https://www.amboss.com/de/wissen/Thalass%C3%A4mie Last accessed: 01.10.2024
              7. Strocchio L, Locatelli F. Hematopoietic Stem Cell Transplantation in Thalassemia. Hematol Oncol Clin North Am. 2018; 32(2): 317–328.
              8. Mulas O, et al. Conditioning Regimens in Patients with β-Thalassemia Who Underwent Hematopoietic Stem Cell Transplantation: A Scoping Review. J Clin Med. 2022; 11(4): 907.