Case Reports Clinical Chemistry 2025 Exercise 6: Diagnosis of Hemoglobinopathies and Thalassemias

Author

Sean T Campbell, PhD

Department of Pathology and Laboratory Medicine

Mount Sinai Hospital

Toronto, Ontario

Department of Pathology

Albert Einstein College of Medicine

Bronx, New York

Primary Audience: Pathologists and Clinical Scientists
Secondary Audience: Residents, Laboratory Technologist/Scientist (Includes all sub-specialty areas), Students, Pathologist Assistants,  Laboratory Directors and Educators

Upon completion of this activity, you will be able to:

• describe the major methods used for hemoglobinopathy diagnosis;
• explain why and how multiple methods are used for hemoglobinopathy diagnosis;
•  discuss the major features of common hemoglobinopathies and thalassemias;
• describe important features to look for when interpreting hemoglobinopathy and thalassemia results;
• identify the most common hemoglobinopathy and thalassemia results from typical testing platforms; and
• describe how discordant results in hemoglobinopathy diagnosis can be investigated.