Laboratory investigation of hemoglobinopathies and thalassemias: review and update.

@article{Clarke2000LaboratoryIO,
  title={Laboratory investigation of hemoglobinopathies and thalassemias: review and update.},
  author={G M Clarke and Trefor Norman Higgins},
  journal={Clinical chemistry},
  year={2000},
  volume={46 8 Pt 2},
  pages={
          1284-90
        }
}
  • G M Clarke, Trefor Norman Higgins
  • Published in Clinical chemistry 2000
  • Medicine
  • Structural hemoglobin (Hb) variants typically are based on a point mutation in a globin gene that produce a single amino acid substitution in a globin chain. Although most are of limited clinical significance, a few important subtypes have been identified with some frequency. Homozygous Hb C and Hb S (sickle cell disease) produce significant clinical manifestations, whereas Hb E and Hb D homozygotes may be mildly symptomatic. Although heterozygotes for these variants are typically asymptomatic… CONTINUE READING

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