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Thalassemias

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Thalassemias
The name for a group of inherited disorders resulting from an imbalance in the production of one of the four chains of amino acids that make up hemoglobin. Thalassemias are categorized according to the amino acid chain affected. The two main types are alpha-thalassemia and betathalassemia. The disorders are further characterized by the presence of one defective gene (thalassemia minor) or two defective genes (thalassemia major). Symptoms vary, but include anemia, jaundice, skin ulcers, gallstones, and an enlarged spleen.


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More than 700 structural Hb variants and thalassemias have been described in published scientific journal articles (2); and, as of June 19, 2009, 1,361 entries have been posted on Hb-Var, a database on human Hb variants and thalassemias available online at http://globin.
And blood disorders known as thalassemias arise when copies of genes that encode subunits of hemoglobin, blood's oxygen-carrying molecule, are missing.
Thalassemias are caused by a mutation in the beta globin chain.
 
 
 
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