Is Thalassemia The Same As Sickle Cell Anemia?
Thalassemia and sickle cell anemia, both are genetic disease of hemoglobin structure inherited from parents to the children or one generation to other. Thalassemia is not same as sickle cell anemia disease. They both are different, in sickle cell anemia, the shape of the RBCs or the red blood corpuscles are sickle shaped, which are unable to carry sufficient amount of oxygen to the other body cells, whereas in case of Thalassemia there is lack of hemoglobin pigment in the RBCs, so they are unable to carry enough oxygen to the other cells of the body.1 Medicines which are able to increase the fatal hemoglobin both in Thalassemia and sickle cell anemia have proved to be quite effective in treating the people suffering from this disease; however, the drug research for a safer and more effective one is still on. The stem cell transplantation has also been used for treating both the disorders, but it also has some limitations. Many experiments have been performed on animals for long term correction of these diseases, but it is still not confirmed for humans. 2, 3
History Of Thalassemia
Thalassemia, also known as Mediterranean Anemia, was first discovered by a Detroit Physician in 1925. This physician was observing and studying few Italian children who were suffering from severe anemia. These children had very low level of hemoglobin, protruded bellies and early childhood deaths. After studying for few years it was found that the cause of Thalassemia is improper structure of the hemoglobin. There are such reactions in the body which destroys red blood cells resulting in Anemia. To compensate the loss of RBCs, the body starts producing the RBCs at a much faster rate resulting in other complications such as abnormalities in the bones, bone marrow and spleen enlargement.4
Causes Of Thalassemia
Our hemoglobin consists of two proteins, the alpha globin and the Beta globin. Whenever a defective gene is unable control the proper production of any one of these proteins, the result is Thalassemia. This way the Thalassemia disease is classified into:
- Alpha Thalassemia. When the genes related to production of alpha globin are missing, malfunctioning or mutated &
- Beta Thalassemia. When the genes related to production of alpha globin are missing, malfunctioning or mutated
- The people from Southeast Asia, China, Middle East, and Africa generally suffer from alpha Thalassemia. Those from the Mediterranean origin suffer from beta Thalassemia.
- Very few of the Chinese, Asian or Africans are affected by beta Thalassemia.5
Treatment of Thalassemia
Just after one or two decades when Thalassemia was discovered, the doctors used to treat this deadly disease by transfusing fresh blood cells in the children, each month. This method removed most of the childhood problems and symptoms and still now it is used as a treatment for Thalassemia. However there is another problem of blood transfusion which occurs in the Thalassemia patients and that is too much deposition of iron in the body. As we all know that blood contains a large amount of iron, which the body is unable to eliminate naturally, so it starts accumulating in the body. This iron causes too much damage in the teenage body leading to eventual death of the patients. Later the research was made and it was found that a drug named Desferoxamine is able to remove excess iron from the body.6 This drug helped the patients from developing iron-induced heart diseases and the Thalassemia patients were able to live much longer.
Currently two other drugs which are consumed orally have been discovered and they are quite effective in removing excessive iron from the body. These drugs have been proved to be life saver for the patients who used to be iron overloaded after blood transfusion because of Thalassemia. Now the expertise imaging tests are also done which helps in finding out amount of iron which is present in the body and to treat them and remove iron from the body so that the iron induced heart problems can be prevented.7