The pathophysiology and molecular genetics of beta thalassemia.

  title={The pathophysiology and molecular genetics of beta thalassemia.},
  author={Bernard G. Forget},
  journal={The Mount Sinai journal of medicine, New York},
  volume={60 2},
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 been possible to establish highly accurate and efficient DNA-based prenatal diagnosis… CONTINUE READING

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