What is the best treatment for thalassemia

Thalassemia

ß- thalassemia

The ß-thalassemia major is a congenital hemoglobinopathy. The red blood cells of these patients have a shortened lifespan due to a hemoglobin defect, so the bone marrow in these patients has to work excessively to maintain adequate hemoglobin levels. If left untreated, these patients experience massive enlargement of the liver and spleen, changes in the bone marrow spaces and deformities in the skeletal system. Without adequate therapy, these children die by the age of five.

The diagnosis is usually made in the first year of life by simply drawing blood and examining hemoglobin electrophoresis.

Immediately after diagnosis, treatment begins with a regular transfusion regimen, i. H. that the children receive transfusions at 3-4 week intervals not only to maintain a sufficient hemoglobin level but also to suppress their own ineffective blood formation, which would stress the body. Over the years, this transfusion therapy leads to massive iron overload of the organs, which, if left untreated, would lead to death in adolescence. From the age of 3, iron-releasing therapy is therefore essential for every thalassemia patient. For years, deferoxamine (Desferal®) has been administered in the form of subcutaneous, nocturnal infusion therapy as the standard therapy. This treatment is also extremely stressful for the child and the adolescent, as it is not only painful, but also has a significant impact on a patient's daily routine. Many thalassemia patients have only performed this treatment irregularly and some of them have died as a result of iron overload. Patients taking deferoxamine are regularly examined for side effects such as inner ear hearing loss, lens opacity and kidney damage.

In recent years, other so-called iron chelators, which can be taken in the form of tablets, have come onto the market. Deferiprone (Ferriprox®) is taken as a tablet 3 times a day. It seems to have a particularly good effect on the heart iron. Side effects are e.g. B. joint pain and in rare cases a drop in white blood cells, especially granulocytes (neutropenia). Deferasirox (Exjade®) has been tested for its effectiveness in large international studies in recent years. This drug works as well as deferoxamine. Side effects included nausea, diarrhea, elevated liver values ​​and protein excretion in the urine.

In cooperation with the radiology department, the extent of the iron load in these patients can now be examined at the University Clinic in Düsseldorf by means of magnetic resonance imaging of the liver and heart. This enables us to control the therapy well.

Patients with homozygous thalassemia require regular care in a specialized center. With optimal therapy, they will reach adulthood. Although it was thought impossible a few years ago, patients with ß-thalassemia major now also have children of their own.

In Germany there are around 600 patients with ß-thalassemia major. It is therefore of particular importance for these patients with a chronic disease to get to know those who are equally affected. A few months ago, the Sickle Cell Disease and Thalassemia Association was founded. V. (IST e.V.) was founded. A web site is currently being set up.

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