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KMID : 1189120100070010001
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대한의학유전학회지
2010 Volume.7 No. 1 p.1 ~ p.8
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Genetic Risk Factors of Hemophilia A
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Shim Ye-Jee
Lee Kun-Soo
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Abstract
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Hemophilia A is a sex-linked recessive coagulation disorder associated with diverse mutations of the factor VIII gene and a variety of phenotypes. The type of mutation involved dictates the activity of factor VIII, and in turn the severity of bleeding episodes and development of alloantibodies against factor VIII (inhibitors). Missense mutations are the most common genetic risk factors for hemophilia A, especially mild to moderate cases, but carry the lowest risk for inhibitor development. On the other hand, intron 22 inversion is the most common mutation associated with severe hemophilia A and is associated with high risk of inhibitor formation. Large deletions and nonsense mutations are also associated with high risk of inhibitor development. Additional mutations associated with hemophilia A include frameshift and splice site mutations. It is therefore valuable to assess the mutational backgrounds of hemophilia A patients in order to to interpret their symptoms and manage their health problems.
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KEYWORD
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Hemophilia A, Factor VIII gene, Mutation, Inhibitor
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