Hemoglobinopathy

Testing at ARUP Laboratories

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.