Molecular pathogenesis and clinical variability of homozygous beta0-thalassemia in populations of Jammu region of J&K state (India).

Abstract excerpt

This study was undertaken to evaluate the variation in the clinical presentation of homozygous beta0-thalassemia from severe disease to a beta-thalassemia intermedia phenotype and to look for the contribution of associated factors in this variation of clinical course. Type of beta0-thalassemia mutations, associated alpha-thalassemia, and XmnI polymorphism in the gamma globin gene, which are known to affect the...

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