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.
For additional information regarding testing strategies, refer to our Laboratory Test Directory.
- ARUP Consult Hemoglobinopathies
- Approach to Anemia Presented by Archana Mishra Agarwal, MD
- Hemoglobinopathies: Clinical and Hematologic Features and Molecular Basis Presented by Abdullah Kutlar