Thalassemia

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 * Who first discovered this disorder?
 * Thomas Benton Cooley discovered thalassemia by studying kids with anemia. [[image:https://lh4.googleusercontent.com/GaFFxPVgHZxcD89MjYkCZiuc7SaBTCVIM0YMR5v2cdnqK4HPtF2Z19hZO4SCsTrcjFKQCUuBAPDZmWWq9D6BFxvk9HlJVOE4Ug91VOj57DRtrRsSrXHHDiCVwY0iggUo6xDCxQtp width="193" height="262"]]

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 * What are the symptoms/characteristics associated with this disorder?
 * Symptoms include bone deformities, delayed growth and development and excessive fatigue. Symptoms often appear during childhood or adolescents. Treatment depends on the severity of your thalassemia and sometimes it cannot be treated. However, in the cases that can be treated, blood transfusion and bone marrow transplants are the only treatment. It can be fatal in the more severe stages.
 * [[image:https://lh6.googleusercontent.com/bPA9vKa29QGG44PerV9fDbeyWeaEIM8ebG3SYizRQHpCwIFas7tDIf8coCaggB4TpGig31XRyemvHFVIgUZhxFk1-ye0aaPE0iQLJz61V1cOA3I0bb2MfJZhY7Tu6G1pM5riIL9x width="193" height="188"]]

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 * What is the inheritance pattern of the disorder?
 * Thalassemia is recessive
 * Are there any environmental factors that can affect the symptoms?
 * There are no environmental factors in thalassemia because it is an inherited disease.

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 * How common is the thalassemia?
 * It is common in Asia, Africa, and the middle east but it can affect anyone. [[image:https://lh4.googleusercontent.com/mgzpYzsBFJ_5RSGUbhY1TvxB1UH698n-4ggi7VbLOCUzly2ucc_54wy16iTWdaGMuTYUlJZrBIpMVHkEUyju1fF26DyHLsGr0Ci0MDdYSsp5mQLc0dYy6RmHRkGrLp507ShPnGi4 width="382" height="241"]]

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 * What tests are done to confirm a diagnosis of thalassemia?
 * The way to test for thalassemia is through a blood test they test for a low level of red blood cells, pale red blood cells and oddly shaped blood cells and it could also confirm thalassemia through DNA analysis. Prenatal testing can also be used to diagnose thalassemia in a fetus. [[image:https://lh3.googleusercontent.com/vhJ1FqMwWpGXjpL3DaxgBaVfo4j23kRdb9QwxYzbgo40K_4_KXXttQIaphwR_mxGl2vt9qapYqNkszp1cfDPehmX7Zkm9kSccET9syDaycsuvnmoDgcWWUrRadjp7XrmNc8hczJx width="300" height="168"]]

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 * Which chromosome(s) is responsible for this disorder? Is it caused by a gene mutation? Which gene is involved? Is it caused by a chromosomal mutation? Which type: nondisjunction, deletion, inversion, etc.?
 * Chromosome #16 is responsible. Thalassemia is caused by a mutation in the HBB gene.