Thalassemia

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fetus). The alpha chain and the beta chain are made in precisely equal amounts, despite the differing number of genes. The protein chains join in developing red blood cells, and remain together for the life of the red cell.

C.) How do abnormal hemoglobins arise?

The composition of hemoglobin is the same in all people. The genes that code for hemoglobin are identical throughout the world. Occasionally, however, one of the genes is altered by any of a variety of "accidents" that can occur in nature. These alterations in the genes (called "mutations") are very rare. Since genes are inherited, and they contain the information needed to make a protein, if a mutation produces an abnormal hemoglobin gene in a person, the gene will be passed on to his or her children. The children will produce a modified hemoglobin identical to that of the parent. Most mutations in hemoglobin produce no problem. Occasionally, however, the alteration in the protein changes aspects of its behavior. The ...

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disorders, such as sickle cell disease.

F.) What happens if a hemoglobin gene "burns out"?

Genes can suffer damage to an extent that they no longer produce normal amounts of hemoglobin. Usually, only one of the sets of hemoglobin genes is affected, that is the alpha gene set or the beta gene set. For example, one of the two beta globin genes may fail to produce a normal quantity of beta chain protein. The alpha globin gene set will continue to produce a normal quantity of alpha chain protein. An imbalance develops in the amount of alpha chain and beta chain protein in the cell. There is too much alpha chain for the amount of beta chain that is present. This imbalance is called ...

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