Beta-thalassemia

What is it?
Beta-thalassemia is an inherited disorder in which beta globin is not able to be produced for the red blood cells. Red blood cells eventually die without the beta globin,which causes anemia for the person.Untreated anemia can lead to death before the age of 30.
Most people receive two beta globin genes, one from his father and another from his mother. The beta globin gene is located on chromosome 11. The genes have the guidelines for the production of the beta globin proteins. The cellular make-up of red blood cells would normally read the guidelines of the genes to make the beta globin proteins. In Beta-thalassemia, the genes have mutations which cause the instructions to change so that the red blood cells do not produce Beta globin.

Beta globin is very important because it is needed to produce hemoglobin, which is a molecule that transports oxygen to each part of the body. The beta globin contains the heme group which grasps the oxygen molecule. A combination of two beta globin proteins and two alpha globin proteins, as well as the heme group form a hemoglobin molecule. Without the beta globin molecules, hemoglobin cannot be produced. This loss of production of hemoglobin tells the body to produce alternate hemoglobin that is not as efficient, leaving extra alpha globins behind. The extra alpha globins attach to the cell walls and with a certain number of alpha globins attached to itself, a cell will kill itself. This occurs in 95% of the new red blood cells. The few red blood cells that survive are small and pale, due to the lack of hemoglobin. With a lack of red blood cells, the bone marrow increases cell production to ten times as fast, yet most of these cells die. With increased cell production, the bone marrow grows larger and interferes with the placement of bones, sometimes causing a change in a person's face shape. The increased cell production can also sometimes damage the spleen.

This is one of the most common occuring genetic disorders. Cases are more common in people from the Mediterranean, Africa and Southeastern Asia. It can be as common as 1 in 10 in some of those areas. An estimation of 2 million people in the United States are either carriers or have some kind of thalassemia.

Early symptoms of Beta-thalassemia can be seen in early childhood if th child has irratibility, difficulty feeding and progressive paleness. If it is not treated it can cause deformities of the skull which causes children to have a rat-like face. And also an enlarged spleen and slow growth. It can be diagnosed through several blood tests which would determine if the person has microcytic anemia as well as the kinds of hemoglobin proteins in the blood at the time. Beta-thalassemia is usually diagnosed during newborn screening tests, otherwise before a child is two years old.

For treatment, people with this have to have regular blood transfusions, they will also need to go through therapy to remove the excess iron that is put into the blood through these transfusions. There can be liver and heart damage of the extra iron is not removed.



Other facts
Another name for Beta-thalassemia is Cooley's anemia.











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