Following diagnosis, the treatment required essentially depends on the severity of the thalassemia.
Thalassemia minor and intermedia
Life expectancy and quality of life are essentially good without treatment. However, patients require occasional transfusions of red blood cells (erythrocytes) when acute anemia occurs due to an infection or during pregnancy. Blood cell creation can be optimized through the administration of folic acid.
With conservative treatment, anemia is primarily corrected through the transfusion of red blood cells, as is the abnormal expansion of bone marrow and extramedullary hematopoiesis. Transfusions must be given regularly, because the life span of healthy red blood cells is 3 months at the most. The transfusions also introduce iron that is contained in the red blood cells and which cannot be broken down by the body in such quantities. Medication must therefore also be administered, to prevent iron poisoning. These high-dose transfusion programs allow sufferers to achieve a satisfactory quality of life for many years.
Life expectancy increases to around 40 to 50 years, after which age quality of life is however often limited.
Thalassemia major can however only be completely cured by means of a blood stem cell transplant (bone marrow transplant).
In this procedure, the old bone marrow that is failing to produce enough blood is first killed off. The transplanted blood stem cells take up residence in the bone marrow where they take over the task of producing blood, so that the patient is able to create healthy red blood cells him/herself and is no longer dependent on transfusions.
The prerequisites for a blood stem cell transplant are the availability of a healthy, tissue-compatible donor and the good clinical condition of the child with thalassemia. For this reason, the donor search and the blood stem cell transplant itself are only carried out by specialist centers.
In Europe, a conservative, lifelong treatment of a patient including all the necessary examinations costs over 60,000 Euros a year. For thalassemia patients in Germany alone, that is around 72 million Euros a year.
Stem cell or bone marrow treatment for the complete cure of the severe form of thalassemia costs over 200,000 Euros in a clinic in Germany.
Compared to the cost of a conservative treatment program, stem cell or bone marrow treatment in a patient who is suitable for a transplant is therefore comparatively cheap. This is because once cured, a patient does not then need any particular environment specially adapted to the disorder or any care from relatives or medical staff, nor do they need to take any further medication for the rest of their life – in fact, they are able to get on with their school and working lives and become a full member of society.