5371 - Thalassemia: an Overview by Abdullatif Husseini What...

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ß Thalassemia: an Overview by Abdullatif Husseini
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What is thalassemia? Thalassemia is a group of inherited disorders of hemoglobin synthesis characterized by a reduced or absent output of one or more of the globin chains of adult hemoglobin . The name is derived from the Greek words Thalasso = Sea" and "Hemia = Blood" in reference to anemia of the sea.
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Alpha ( α ) thalassemia It appears when a person does not produce enough alpha chains for hemoglobin. It is mainly prevalent in the Africa, the Middle East , India, and occasionally in Mediterranean region countries.
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Beta (ß) thalassemia It appears when a person does not produce enough beta chains for hemoglobin. It is mainly prevalent in the Mediterranean region countries , such as Greece, Cyprus, Italy, Palestine and Lebanon.
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Types of Thalassemia α thalassemia:   There are four types categorized according to the severity of their effects on persons with thalassemia. ß thalassemia: There are 3 types categorized according to severity: Thalassemia minor Thalassemia intermedia Thalassemia major
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Genetics of ß thalassemia Monogenic disorder: a single gene disorder ß thalassemia result from over 150 mutations of the ß globin genes that result in the absence or a reduction of the ß globin chains
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Chromosomes Source: Thalassemia.com
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Transmission of ß thalassemia If a carrier (thalassemia minor) marries a non-carrier, on average half of their children will be carriers, but none will develop thalassemia major.
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Transmission ß of thalassemia - Cont However if two carriers marry, in each pregnancy there is a 25% chance of a non-carrier child, a 50% chance of a carrier child (thalassemia minor), and a 25% chance of a child with thalassemia major.
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An example of inheritance: a carrier married to a normal person Source: Emirates Thalassemia Society
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An example of inheritance - Cont: marriage between two carriers Source: Emirates Thalassemia Society
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This note was uploaded on 02/23/2012 for the course PHARM 290 taught by Professor Staff during the Fall '10 term at Rutgers.

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5371 - Thalassemia: an Overview by Abdullatif Husseini What...

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