A hereditary defect prevents the formation of normal blood pigment, hemoglobin A, in red blood cells.
Instead of it, as a partial compensation, cells contain another form of hemoglobin, hemoglobin F, which is commonly found only in newborns. However, in adults, only a small amount of hemoglobin F is produced, and red blood cells are less common. In addition, hemoglobin-containing cells F disappear faster than cells containing normal hemoglobin A. People with thalassemia usually suffer from severe anemia.
Thalassemia in the most severe form (thalassemia major) occurs only in those people who inherited that defect from both parents. If a person inherits it from only one parent, the consequence is a thalassemic anomaly (thalassemia minor) that rarely causes the symptoms (except, sometimes, in pregnancy).
Symptoms of thalassemia are similar to symptoms of hemolytic anemia: pale skin, fatigue, weakness, breathing difficulties and heart palpitation. A child who is suffering from this illness is usually not lively.
Thalassemia minor is much more common than the severe form of thalassemia, but rarely occurs among the inhabitants of northern Europe and, hence, the severe form of thalassemia is extremely rare in these regions. This disease occurs mainly among the peoples of the Mediterranean, the Middle East and the Far East.
People with thalassemia minor are threatened with minor or no dangers. People with thalassemia major need frequent blood transfusion to treat anemia. Such treatment entails the risk of accumulation of iron in the body, which can damage the liver and the heart and lead to death due to decompensation of the heart.
What to do?
If you notice the symptoms described with you or your child, contact a doctor who will examine the possibility of thalassemia, especially if it is known that the disease is inherited in your family. First, your doctor will take your blood for analysis.
If any form of this disease exists in your family – even if it is thalassemia minor – and you are thinking about the offspring, ask your doctor if your child may inherit that illness. The doctor will refer you to a genetic counseling center, i.e. a hereditary specialist. Today, the diagnosis can be set in pregnancy by a procedure called fetoscopy. If the unborn child is seriously affected with this disease, the parents will be advised to terminate the pregnancy.
The basic genetic defect, which causes thalassemia, can not be cured. Regular blood transfusions will alleviate the symptoms of anemia, although some patients will need additional drug therapy to prevent frequent transfusion.