Children Thalassemia

Children Thalassemia

  Autor NN Team Data: 22.01.2009

Children Thalassemia
The thalassemia represents a group of blood diseases, of different severity. Maybe the description of these diseases sounds worrying, but the perspectives are encouraging. During the last 20 years, many new modern treatments and therapies have improved the lifestyle of children with thalassemia and have much extended life expectancy. 

Thalassemia is a genetic disease which implies the low synthesis or the deficiency of hemoglobin, a molecule which is found in the red blood cells and is necessary for the transport of oxygen into the blood. 

Hemoglobin contains two different proteins chains, called alpha and beta. Any deficiency regarding these chains, cause abnormalities of form, size and shape of the red cells. Depending on the protein chain that the disease affected, there are two types of thalassemia: alpha-thalassemia and beta- thalassemia. 

Thalassemia causes an insufficient and/or inefficient synthesis of red cells. Therefore, children with thalassemia have a reduced number of red cells in the blood. The disease is called anemia and affects the transport of the oxygen to the body cells and tissues. More than that, the thalassemia makes the red blood cells smaller than normally, or makes the red cells hemoglobin, less than normally. 

There are different types of thalassemia, some are more severe, some are milder. There are children with just a mild anemia caused by thalassemia, or with severe anemia which needs constant medical treatment. 

Thalassemia is an inherited disease, transmitted from parents to children. A child cannot suffer from thalassemia unless he inherited the gene from both parents. If a child inherits the thalassemia gene from only one parent, he will only carry the gene. The disease won't show and the child won't need any treatment. There are many families with gene carriers, but they are not diagnosed as the disease won't show. It's only when one carrier meats another one, that their children will suffer from thalassemia. 

Alpha-thalassemia 

Children carrying the alpha-thalassemia gene are considered not to suffer from thalssemia. In infants, there is a blood test to take, the hemoglobin electrophoresis which detects the alpha-thalassemia gene, but this is taken only after all other diseases were excluded. In older children and adults, the disease might be harder to identify. Children carrying the alpha- thalassemia gene don't have too serious health issues. They can be a little anemic, thus a prolonged mild fatigue. This fatigue may be wrongly interpreted, as being caused by an iron insufficiency. 

Other cases of alpha- thalassemialte look like another form of this disease, called intermediary beta-thalassemia. Children with this type of disease may sometimes need blood transfussions, usually when they are sick, with fever or when the anemia is as severe as to cause deep fatigue. 

The most serious type of alpha-thalassemia is the alpha-thalassemia major. This is an extremely rare type, because the disease affects the fetus which usually leads to a miscarriage. 

Beta-thalassemia 

The beta-thalassemia is the most frequent type of thalassemia. This might also be of three types: minor, intermediary and major. A couple with both partners carrying the gene, has 25% chances to have a child with thalassemia. 

Beta-talasemia minor is often undiagnosed as the sick people don't show any symptoms instead a slight anemia. This disease might be suspected after taking a complete CBC and might be confirmed through a hemoglobin electrophoresis. Even so, the treatment is not necessary in most cases. The disease might be confused with an iron deficiency, same as alpha- thalassemia minor. 

In children with beta-thalassemia intermedia, the symptoms may vary a lot, from a mild anemia to such a severe one that the child needs regular transfusions. The most common symptom is the fatigue, especially when the child makes an effort. Some children have palpitations or mild jaundice. The liver and spleen might be enlarged, and also the gallbladder might word differently, thus leading to gall stones. If the anemia is serious, it might affect the child's growth. Another symptom of beta-thalassemia intermedia is represented by bones abnormalities. The bone marrow works harder to produce more red cells, the cheeks; forehead and other bones too might get bigger. 

Some children with beta-thalassemia intermedia need transfusions only sometimes. Anemia is always present, but the transfusions are necessary only when the child is sick or physically very tired. Unfortunately, others need regular transfusions. This method helps them get rid of the fatigue and prevents the growth issues or bones deformation. 

A beta-thalassemia intermedium is usually diagnosed in the first year of the child's life. The doctors can take specific tests because of the anemia or of the family medical history. If the disease is diagnosed timely, when there is no complication, it might be treated and supervised without problems. 

Beta thalassemia major, also called Cooley anemia, is a severe disease which needs regular transfusions for the patient to survive. Even if the frequent transfusions may save life's, they also have side effects: an iron overload of the body. With time, the excessive iron in the body accumulates in the liver, heart and endocrine glands. These deposits affect the normal functioning of the liver and heart, and slow down the growth and the sexual maturing. 

In order to reduce the iron deposits in the body, people with thalassemia need a special treatment called chelation, meaning the injection of a particular drug. Nowadays, the drugs that eliminate the iron are only injections, but new ones are being created, and they will be orally administered. 

The chelation therapy is difficult, lasts long and must be frequent, but it can prevent problems related to excessive iron. Unfortunately, the drug used for chelation has its side effects which include hearing and vision problems. 

The repeated tranfusions imply other risks too, for example of blood-borne diseases (hepatitis, HIV), but the risk is minimum today as the transfused blood is very carefully tested before. 

People with beta-thalassemias major live a difficult childhood and adolescence, especially because of the repeated transfusions and chelation therapy. Recently, there have been some bone marrow transplants in order to treat this disease, but the transplants represent a solution only for the severe thalassemia cases, as they imply certain risks not insignificant at all. The surgery implies the destruction of all cells in the child's bone marrow, and the filling of the empty space with donor's cells, which must match perfectly. The bone marrow transplant can be made only at children under 16 without liver problems. Until now, the results have been good. All patients survived and got rid of the thalassemia. There have been successful surgeries with embryonic stem cells, but this type of treatment is still being tested. 





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