Beta Thalassemia Subtypes
BETA THALASSEMIA MINOR/BETA THALASSEMIA TRAIT One of the two beta globin genes on chromosome 11 is abnormal. A person with beta thalassemia trait may have mild anemia. BETA THALASSEMIA MAJOR/COOLEY’S ANEMIA Both of the two beta globin genes passed from the parents are abnormal. When this happens, very little or no normal hemoglobin is made by the body, causing severe anemia. Blood transfusions are needed to maintain all functions of the body and remain healthy. BETA THALASSEMIA INTERMEDIA This type of thalassemia is inherited like beta thalassemia major. While both beta globin genes are abnormal, they still allow the body to produce some normal hemoglobin. There is moderate to severe anemia. Blood transfusions will likely be needed throughout the child’s lifetime, especially during growth spurts, illness, and pregnancy.
n WHAT ARE THE COMPLICATIONS OF THALASSEMIA?
ANEMIA The abnormal genes characterized by thalassemia cause anemia, or decreased hemoglobin, that ranges from very mild to severe. Mild anemia may cause a child to be pale. Severe anemia can cause a child to tire easily, grow slowly, and may affect the function of the heart. For children living with hemoglobin H disease, beta thalas- semia major, and, sometimes, beta thalassemia intermedia, red blood cell transfusions will be needed to keep them healthy. The frequency of red blood cell transfusions depends on the degree of anemia and how well your child is growing. BONE DEFORMITIES Blood is made in the bone marrow of the body’s large bones. In thalassemia, the bone marrow works very hard to fix the anemia, causing the bone marrow to expand inside the large bones. As a result, the bones widen and deformities can develop, especially in the face and skull. The bones can also weaken and easily fracture. The way to prevent these bone changes is to correct the anemia with red blood cell transfusions. SPLENOMEGALY (ENLARGED SPLEEN) The spleen is an organ in the abdomen under the left side of the ribs that is usually the size of a fist. The spleen acts as a filter by breaking down and removing old and abnormally shaped red blood cells, such as those caused by thalassemia. Although it does not usually make blood cells, the spleen will try to help out if anemia is severe enough. This can happen when a child with thalassemia is not receiving enough blood through transfusions. When the spleen starts to make blood it can become bigger. The spleen also begins breaking red blood cells down faster, even the ones from transfusions. This condition is known as hypersplenism. Increasing transfusions may correct hypersplenism. Sometimes it cannot be corrected. A splenectomy , which is the surgical removal of the spleen, may be needed to treat the hypersplenism. The spleen helps protect the body from infection by making lymphocytes , special infection-fighting white blood cells. As a filter, the spleen also catches bacteria that invade the blood so they can be destroyed. Without a spleen, bacteria will flow through the bloodstream and can cause a serious infection in a very short period of
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