Abstract:Thalassemia intermedia lies between asymptomatic β-thalassemia carrier state to severe thalassemia Major. XmnI polymorphism is one of the modifying factors of intermedia phenotype. This study intendeds to determine the frequency of Xmn-I polymorphism and its association with different beta chain mutations that would contribute towards the phenotype. 100 whole blood samples of thalassemia intermedia patients were tested for the common beta chain mutations found in Pakistan and then tested for Xmn-I polymorphism… Show more
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