Genetic complexity in sickle cell disease.

@article{Higgs2008GeneticCI,
  title={Genetic complexity in sickle cell disease.},
  author={Douglas R Higgs and William Graham Wood},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2008},
  volume={105 33},
  pages={
          11595-6
        }
}
Sickle cell disease (SCD) was the first human monogenic disorder to be characterized at the molecular level (1). It results from the substitution of glutamic acid by valine at position 6 of the β-chain of hemoglobin. The clinical manifestations of SCD arise from the tendency of sickle hemoglobin (known as HbS or α2βS2) to polymerize at reduced oxygen tensions and deform red cells into the characteristic rigid sickle cell shape. Such inflexible red cells cannot pass through the microcirculation… CONTINUE READING

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