Definition and causes
Thalassæmi due to an inherited defect in the formation of the iltbærende substance hemoglobin, to a predominance of the type of hemoglobin, which formed in the embryonic stage. The red blood cells become more unstable and therefore degrades faster than they can be formed (see hemolytic anemia) Arves the disease from both parents (see Genetics ), The disease is more serious and called Cooleys anemia.
The disease is most prevalent in thalassæmibæltet, stretching from the Mediterranean countries of the Middle East, Iraq, Iran, Pakistan, India and South-East Asia. In this area, up to 30% of the population carry the gendefekten. Globally, there are 3%, which holds gendefekten, and in the Danish population, the disease is rare. Studies have shown that between 2-4% of the immigrant population in Denmark has gendefekten.
Symptoms of thalassæmi
Since the level of the disease vary widely, the symptoms will be expressed differently depending on the type of thalassæmi Monday.
- By the serious form of thalassæmi (Cooleys anemia) is already a few months after the birth sign of anaemia Such as paleness, fatigue, shortness of breath and heartbeat. Develop osteoporosis (osteoporosis) and knogleforandringer, enlarged spleen and sometimes enlarged liver. Small children will be tired and utilpasse and have difficulties to follow jævnaldrendes development.
- In the medium level of the disease there at times, signs of anaemia.
- Symptoms are very modest, or not existing at the mild form of the disease.
Precautions and diagnosis
Developer Monday the above symptoms, and come Monday from a country in thalassæmibæltet, it is recommended to be tested for the disease by the doctor. Moreover, it has to be extra attention to be examined if a family member is familiar with the disease.
A blood test can help to make the diagnosis. In addition, looks on the red blood cells under a microscope, and these will in the event of thalassæmi have a special size and shape. If you have questions can be a knoglemarvsbiopsi contribute to the diagnosis.
Consideration of thalassæmi
The only treatment that helps permanently, is a bone marrow , Preferably from a family member. Only about. 30% have access to such a treatment. A structured programme with many blood is of vital importance and helps both anæmien and prevents the development of knogledeformiteter and enlarged spleen.
Due. the hæmolytiske anaemia and the persistence of blood to accumulate iron in the body. Too much iron in the body can cause problems in heart and liver. In such cases gives a jernbindende substance, and the iron will of this excreted from the body.
In severe degrees of the disease, a removal of the spleen on the fields.
Select and complications
By the heavy degree of the disease is the prognosis is very bad, if not, boot treatment already in childhood. Untreated, the disease lead to death during the child's first year of life. By effective blodtransfusionsbehandling and by ensuring that the iron does not accumulate in the body, living a well-functioning adult life. However, the life span considerably reduced, and treatment is associated with many difficulties.
By the mild degree of the disease is the life normal.
Prevention of thalassæmi
If the parents or a family member is familiar with the disease, it is recommended that the pregnant will be screened by getting moderkageprøve .