Thalassaemia is an inherited blood disorder and can be simply stated as the inability of the body to produce adequate amount of Hemoglobin in the red blood cells. The result is severe anemia. Children suffering from this blood disorder require a blood transfusion every month of their lives in addition to treatment for iron overload due to the excessive number of transfusions and intra and extra vascular hemolysis.
Thalassemia is a genetic blood disorder. People with Thalassemia disease are not able to make enough hemoglobin, which causes severe anemia. Hemoglobin is found in red blood cells and carries oxygen to all parts of the body. When there is not enough hemoglobin in the red blood cells, oxygen cannot get to all parts of the body. Organs then become starved for oxygen and are unable to function properly.
There are two primary types of Thalassemia disease: Alpha Thalassemia disease and Beta Thalassemia disease. Beta Thalassemia Major (also called Cooley's Anemia) is a serious illness. Symptoms appear in the first two years of life and include paleness of the skin, poor appetite, irritability, and failure to grow. Proper treatment includes routine blood transfusions and other therapies.
There are two main types of Alpha Thalassemia disease. Alpha Thalassemia Major is a very serious disease in which severe anemia begins even before birth. Pregnant women carrying affected fetuses are themselves at risk for serious pregnancy and delivery complications. Another type of Alpha Thalassemia is Hemoglobin H disease. There are varying degrees of Hemoglobin H disease.
Alpha thalassemia results in an excess of beta globins, which leads to the formation of beta globin tetramers (β4) called hemoglobin H. These tetramers are more stable and soluble, but under special circumstances can lead to hemolysis, generally shortening the life span of the red cell. Conditions of oxidant stress cause Hgb H to precipitate, interfering with membrane function and leading to red cell breakage. Hemoglobin H-Constant Spring disease is a more severe form of this hemolytic disorder. The most severe thalassemia is alpha thalassemia major, in which a fetus produces no alpha globins, which is generally incompatible with life.
Beta Thalassaemia is one of the most commonly inherited disorders in the country, with a prevalence rate of 6 % in the Pakistani population. However, ignorance dictates that people are unaware of its existence and are clueless regarding its symptoms.
In Thalassaemia, the red blood cells not only have shorter life spans than healthy RBC’s, but they also have genetic mutations of protein chains necessary to build healthy hemoglobin. This requires regular blood transfusion to Thalassaemics for maintaining their health.Unless an exact bone marrow can be found from within the siblings and a transplant carried out, the patient is condemned to a life of monthly if not weekly blood transfusions just to survive. Due to the repeated blood transfusions excess iron gets accumulated in the body which needs to be removed. This is carried out by regularly injecting the Thalassaemics with an injection which is given through a chelation pump- a procedure of almost 8 hours of painful treatment.
Thalassaemia is an inherited disease of the blood. It reduces the amount of hemoglobin the body can make therefore it causes anemia. In order to treat this anemia, the traditional treatment consists of:
Precisely, this treatment does not involve blood transfusion, but the transfusion of red blood cells. Thalassaemics are only short of red blood cells but they make the other parts of the blood quite normally. Blood transfusion should be arranged to keep the child’s hemoglobin in the normal range (between 11 – 14 g/dl). So thalassaemics should be transfused when the hemoglobin is around 70% and it should be raised to around 100%.
Due to repeated transfusions, iron gradually accumulates in the body. It is stored in certain organs, particularly the liver, heart and endocrine glands and can cause damage. Therefore, the drug ‘Desferal’ is used regularly to keep the amount of iron in the body of a thalassaemic down to a safe level.
If the treatment of Thalassaemia is not proper, the spleen whose normal job is to destroy red blood cells in the circulation begins to destroy young red blood cells as well. Therefore, transfusion becomes less and less effective. Then it becomes necessary to take the spleen out which is called ‘Splenectomy”.
