Red blood cells contain a protein called hemoglobin, which allows them to carry oxygen to tissues. Mutations in hemoglobin, which results in a condition known as thalassemia, cause red blood cells to be broken down more quickly and made more slowly. This results in anemia, which means that it is difficult for the body's tissues to get enough oxygen.
Identification
Thalassemia is a condition in which the body makes abnormal forms of hemoglobin. Thalassemia is a hereditary disease, which means that it runs in families and is the result of genetic problems. The abnormal hemoglobin causes red blood cells to become destroyed too quickly, resulting in anemia.
Hemoglobin
Hemoglobin is the protein which is responsible for helping oxygen move around in the blood. Hemoglobin is made up of two parts: alpha globin and beta globin. Both of these components are essential for hemoglobin's ability to bind to and release oxygen. Thalassemia results when there is a genetic mutation that affects the production of one of these two components.
Types of Thalassemia
There are two types of thalassemia: alpha thalassemia, the result of mutations affecting alpha globin, and beta thalassemia, resulting from changes in beta globin. Both kinds of thalassemia come in two forms: major and minor thalassemia. Thalassemia is a disease that is passed on genetically, and all individuals have two copies of each gene. Major thalassemia is the result when both copies of the gene are mutated. Minor thalassemias are the result of a mutation in just one copy.
Symptoms
Thalassemias result in anemia as there is not enough hemoglobin produced to create enough red blood cells in the body. Anemia's core symptoms are fatigue and weakness. Other symptoms include shortness of breath, slow growth and jaundice. Some people with thalassemias also have dark urine, a protruding abdomen and deformed bones in the face.
Treatment
Treatment varies depending on how serious the thalassemia is. Mild (minor) thalassemia generally does not require much treatment, aside from occasional blood transfusions after traumatic events such as surgery. More serious thalassemia will require more frequent blood transfusions. In addition, because the breakdown of the hemoglobin causes iron to be released into the blood, patients with major thalassemia may need to take medications that bind to and pull iron out of the blood, known as iron chelators.
