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What is Thalassemia by Brian Ly

By at November 3, 2011 | 6:18 am | Print

Thalassemia is a genetic blood disorder that affects the production of the hemoglobin. Hemoglobin is a protein that is located in the blood and transports oxygen from the lungs to the rest of the body. If there is not enough hemoglobin, then blood cells will not be able to carry enough oxygen to the organs, resulting in that organ not functioning properly. Hemoglobin is made up of two proteins, alphaglobin and betaglobin. Thalassemia occurs whenever there is something wrong with the production of either of these two proteins.

Beta thalassemia occurs when an individual does not produce enough beta protein in their hemoglobin. This is due to mutations in the globin gene which causes the amount of the particular globin protein chain to be produced. There are 100 to 200 mutations that have been identified, but only about 20 are common. This can result in cases of thalassemia that range from mild to severe. In minor cases, someone with this disorder would just produce a smaller amount of red blood cells than normal. This person has one normal gene, and one mutated gene. These people usually suffer from mild anemia but other than that experience little to no health problems. A more severe case of beta thalassemia means more added discomfort. This person will develop a major case of life threatening anemia that will not respond to iron supplements and suffer from numerous health problems. They will also produce excessive amounts of iron in their blood, which if go untreated, will lead to organ damage and failure.

Alpha thalassemia occurs when an individual does not produce enough alpha protein in their hemoglobin. Alpha thalassemia is due to the deletion or mutation in one or more of the four globin gene copies. Just like in beta thalassemia, alpha thalassemia can have mild or severe cases. Mild cases of alpha thalassemia can include mild anemia, fatigue, shortness of breath, or discomfort. Severe cases of alpha thalassemia can lead to bone deformities in the face and body, yellowing of the skin, and an extremely dangerous case of anemia. Women who are pregnant and have alpha thalassemia have a high chance of having a stillbirth. That is when the baby either dies during birth or during the last stages of pregnancy. It is advised that women who suffer from alpha thalassemia should avoid pregnancy due to complications that can be passed down genetically to the fetus. Thalassemia can be passed down genetically and if the baby survives the birth, he or she will be faced with a lifetime of health problems. As infants with alpha thalassemia grow, they exhibit discoloration of the skin. They also experience slow growth in the early years of their life and eventually suffer from an enlarged liver and changes in their facial features such as the shifting of cheekbones and the slanting of the eyes.

Treatment for thalassemia is dependent on its severity. Depending on the type of thalassemia an individual has, a variety of treatment options are available. People who have a mild form of it require no treatment, but people who have a high form of it require regular blood transfusions. Since people with thalassemia cannot produce enough hemoglobin in the blood to supply the body with oxygen, by inserting new blood that has a proper amount of red blood cells and hemoglobin, the body is temporarily able to recover. A blood transfusion is the replacement of blood in your body with new blood. Blood is transferred to the body through a vein, usually in the arm or chest. There is currently no cure for thalassemia. There are only treatments for the symptoms of thalassemia which come with numerous side effects.

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