Hemoglobinopathies are inherited disorders in which there is abnormal production or structure of the hemoglobin molecule. They are the most common monogenic diseases and fall into two groups:

  • Hemoglobin structural variants are defects in the hemoglobin molecule, the best known of which is sickle cell anemia.
  • Thalassemia refers to the reduced production of either alpha or beta chains, such as in α-thalassemia.

Testing Algorithm


For additional information regarding testing strategies, refer to our Laboratory Test Directory.

Additional Resources