Beta Thalassemia

Beta thalassemia

Thalassemia disrupts the formation of the red blood pigment (hemoglobin). The reason for this are congenital changes (mutations) in the genetic material. In this group of diseases, certain globin chains (protein chains) are formed too little or not at all. These are the building blocks of the red blood pigment hemoglobin, which in turn is an essential part of red blood cells. As a result of the disorder, red blood cells are reduced or die prematurely. It leads to anemia (anemia) and in severe cases to enlargement of the spleen and liver and damage to other internal organs.

Hemoglobin is the main component of red blood cells and ensures the transport of oxygen in the blood. Thanks to its iron components, it can bind oxygen in the lungs and release it into the body tissue.

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• What are the causes of thalassemia?
• What are the symptoms of thalassemia?
• How is the diagnosis made?
• How is the treatment carried out?
• Whom can I ask?
• How are the costs going to be covered?

What are the causes of thalassemia?

Thalassemia is an inherited disease. Thalassemia is caused by congenital changes in the genetic material. Thalassemia is a group of diseases in which there is a congenital disorder in the formation of the globin chains (the protein chains of the oxygen transporter hemoglobin).

In addition to very rare forms of thalassemia, one differentiates

• Beta-thalassemia (β-thalassemia, disruption of the formation of the beta-protein chains of hemoglobin) and the
• Alpha thalassemia (α-thalassemia, disruption of the formation of the alpha protein chains in hemoglobin)

This particularly affects people with ancestry from Africa, the Middle East, Asia (India), eastern Turkey and the Mediterranean region.

What are the symptoms of thalassemia?

The symptoms and severity of thalassemia depend on the individual situation or the genetic defect. They range from no relevant or barely noticeable complaints to severe forms. It leads to anemia (mild to severe anemia) and, in severe cases, enlargement of the spleen and liver and damage to internal organs.

Depending on the degree of severity, a distinction is made between:

• Thalassemia minor. Affected people inherit the genetic change from one parent, the gene without change from the other parent (heterozygous, “mixed-blooded”). They are carriers of the disease and can pass it on to their children. There are few or no symptoms (possibly slight anemia). Therapy is usually not required.
• Thalassemia intermedia. Special genetic constellations and disease characteristics shape this form, for example those affected often have mutations in both the beta globin chain gene and the alpha globin chain gene. This is characterized by moderate symptoms (anemia, splenomegaly). A transfusion is only necessary occasionally.

Thalassemia major. Affected people inherit the faulty gene from mother and father (homozygous, “pure inheritance”). It becomes severe with mostly severe anemia. In severe form, those affected usually have to receive blood transfusions and chelation therapy for life. A stem cell transplant can be done. In severe form of beta thalassemia, severe anemia develops in the first year of life and must be treated. In severe form of alpha thalassemia, the anemia develops in the womb and survival is only possible through transfusions via the umbilical cord during pregnancy. Signs of the disease or lack of oxygen in babies and children are increasing paleness, fatigue, jaundice, growth disorders, broken bones, bone deformations (in small children). The liver and spleen may be enlarged

How is the diagnosis made?

In addition to physical examinations, the anamnesis (taking the medical history) can provide clues. Among other things, the following are carried out:

• Blood count and blood smear,
• Hemoglobin electrophoresis,
• molecular genetic tests (to determine the mutation in the genes), genetic counseling,
• various examinations (e.g. ultrasound of organs).

In addition, various examinations (echocardiography, MRT etc.) may be necessary to clarify the function of the organ.

Further information can be found at

• Genetic testing
• genetic counseling
• Prenatal diagnostics.

How is the treatment carried out?

The treatment is based on the individual situation of those affected. Ideally, employees from specialized facilities (pediatric hematological centers) work closely with family doctors and pediatricians, those affected and relatives.

No treatment is necessary for thalassemia minor. With thalassemia major, a

• Bone marrow transplantation / stem cell transplantation are carried out (curative).
• If this is not possible, lifelong, regular blood transfusions are required.
• Iron chelate binders are prescribed to prevent iron build-up. (Since the body tries to compensate for the anemia through increased iron absorption in the body and additional iron enters the body through the transfusion. However, the iron cannot be used any further and can lead to a deposit in the organs life-threatening complications, such as cardiac weakness, cardiac arrhythmias, liver dysfunction, etc.)
• Folic acid and hormone treatment can also be used.

Examinations and controls are constantly necessary in order to recognize complications in good time and to be able to take medical measures. Depending on the situation, blood tests, determination of blood groups, virus serology (blood transfusion), examinations prior to a stem cell transplant, ultrasound, EKG, echocardiography, MRI, liver values, thyroid values, hormone status, etc. may be required for this.

More information on stem cell transplantation.

Whom can I ask?

Contact points are:

• Family doctor
• Specialist in paediatrics and adolescent medicine
• Specialist in hematology or specialization in pediatric hematology
• Departments of hematology and pediatric hematology

Other specialists, health professions and various departments of a hospital (e.g. in the clarification and treatment of complications) are also involved in the processes.

How are the costs going to be covered?

The e-card is your personal key to the benefits of the statutory health insurance. All necessary and appropriate diagnostic and therapeutic measures are taken over by your responsible social insurance agency. A deductible or contribution to costs may apply for certain services. You can obtain detailed information from your social security agency. Further information can also be found at:

• Right to treatment
• Visit to the doctor: costs and deductibles
• What does the hospital stay cost?
• Prescription fee: This is how drug costs are covered
• Rehabilitation & cure
• Medical aids & aids
• Health Professions AZ

and via the online guide to reimbursement of social insurance costs.

You can also find information on how the costs are covered under Genetic Tests and Stem Cell Transplantation.