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Beta Thalassemia

Source: www.cooleysanemia.org
Topic: Thalassemia
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Sort Desciption: To understand how thalassemia affects the human body, you must first understand a little about how blood is made. Blood carries oxygen from your lungs to other parts of your body using a protein called hemoglobin found in red blood cells. ...

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To understand how thalassemia affects the human body, you must first understand a little about how blood is made. Blood carries oxygen from your lungs to other parts of your body using a protein called hemoglobin found in red blood cells. Hemoglobin is made of two different kinds of protein chains, called alpha and beta globins. Beta globin is made by two genes, one on each chromosome 11. Individuals who have one abnormal beta globin gene have beta thalassemia trait (also known as beta thalassemia minor). BETA THALASSEMIA TRAIT/MINOR In beta thalassemia trait, one of the two beta globin genes is abnormal but the lack of beta globin is not great enough to cause problems in the normal functioning of the hemoglobin. A person with this condition simply carries the genetic trait for beta thalassemia and will usually experience no health problems other than a mild anemia. Physicians often mistake the small red blood cells of the person with beta thalassemia minor as a sign of iron-deficiency anemia and incorrectly prescribe iron supplements that have no affect on the anemia. 1 Beta thalassemia is found in people of Mediterranean, Middle Eastern, African, South Asian (Indian, Pakistani, etc.), Southeast Asian and Chinese descent. Normal beta globin genes found on chromosomes 11 .then there is a 25% chance with each pregnancy that their child will inherit two abnormal beta globin genes. In its most severe form, this may cause beta thalassemia major or Cooleys anemia, a blood disorder in which the lack of beta globin causes a life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care. Lifelong transfusions lead to iron overload which must be treated with chelation therapy to prevent early death from organ failure. In a somewhat milder form, the inheritance of two abnormal beta globin genes may cause beta thalassemia intermedia, in which the lack of beta globin in the hemoglobin causes a ...

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