Hemoglobinopathies are a group of inherited disorders in which there is an abnormal production or structure of the hemoglobin molecule. These abnormalities fall into several categories:
- Abnormal rate of production of amino acid chains needed to produce normal hemoglobin (example: thalassemias)
- A single amino acid substitution involving one of the normal hemoglobin chains (example: sickle cell disease or trait)
- The fusion of hemoglobin chains (example: hemoglobin Lepore)
- The abnormal elongation of an amino acid chain (example: hemoglobin Constant Spring)
- Other types of abnormalities which may or may not result in some type of pathological condition
Although amino acid substitution in a globin chain is the most common cause of hemoglobinopathies, deletion or addition of an amino acid in a globin chain or fusion of globin chains can also result in this condition.
Currently, more than 600 hemoglobinopathies have been identified, but this course will focus on hemoglobin S disorders, which are caused by a single amino acid substitution and lead to the production of hemoglobin S.
