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Hemoglobinopathies are a group of inherited disorders in which there is an abnormal production or structure of the hemoglobin molecule. Such disorders include the following:

  • Hemoglobin C disease  
  • Sickle cell disease
  • Various thalassemias


Structural abnormalities that occur in hemoglobinopathies include:

  • Substitutions of an amino acid in the coding sequence of one or more of the globin chains
  • Amino acid deletions
  • Amino acid additions
  • Globin chain fusions