Thalassemia -also called Cooley’s Anemia, Hemoglobin H disease, Hydrops fetalis, and Mediterranean Anemia, is a group of blood disorders that have a genetic defect in the production of Hemoglobin. Thalassemia is an inherited autosomal recessive blood disease. Thalassemia disorders are classified according to the type of globin polypetide chain that is under produced. Hemoglobin is the protein that enables red blood cells to carry oxygen and carbon dioxide throughout the human body. Thalassemia can be mild or severe and is usually detected in babies in their early stages of life. Some carriers of this auto recessive disease have no symptoms. Severe Thalassemia is treated with blood transfusions and treatment to remove excess iron in the blood. Many people who have severe Thalassemia often develop osteoporosis, because of their weak and brittle bones.
Hemoglobin consists of two parts, heme and globin, in Thalassemia the heme part of hemoglobin is normal but the defect is within the globin part of hemoglobin. Globin is a protein that is composed of four subunits called the globin polypeptides chains. Adult hemoglobin is the predominant type of hemoglobin that occurs from birth until death..in adult hemoglobin, two of the polypeptide chains are identical to one another and are designated to alpha chains. The other two chains are also identical to one another, but differ from the alpha chains and are called the beta chains. Fetal hemoglobin (Hb F) is the predominant hemoglobin of the fetus. In fetal hemoglobin, there are two alpha chains but the two different chains are not beta chains. They are called gamma chains. There are alpha chains in both fetal and adult hemoglobin. Both fetal and adult hemoglobin are dependent on a alpha chains.
There are two pairs of genes per person that normally code for the alpha chains of hemoglobin. Impairment of one alpha-chain is benign or mild. Impairment of all four alpha-chain gene is...