Hemoglobin

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Basics

  • An oxygen-transport protein
  • Accounts for 90% of the weight of a red blood cell
  • Has a sigmoid-shaped dissociation curve
  • Tetrameric structure that (in adults) consists of 2 α and 2 β chains
  • 483 β chain, 201 α-1 chain, and 36 α-2 chain variations described

Diseases

  • A lack of globin chain synthesis, or mutations in chromosomes 16 or 11 lead to thalassemia
  • Point mutations in the beta gene leading to amino acid substitution of valine for glutamine lead to Sickle cell disease
  • Lack of iron leads to iron deficiency anemia