The pathophysiology and molecular genetics of beta thalassemia.

Abstract excerpt

Review of the pathophysiology and molecular basis of beta thalassemia reveals that an extremely heterogeneous group of molecular defects can give rise to a relatively uniform clinical and hematological phenotype that is primarily the result of the excess of free alpha-globin chains that accumulate in the face of absent or markedly reduced beta-globin chain synthesis. Despite the molecular heterogeneity, it has...

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