Laboratory Diagnosis of Hemoglobinopathies and Thalassemia


Hemoglobinopathies and thalassemias are among the most common genetic diseases, with 7 percent of the world’s population carrying a hemoglobin mutation. Due to relatively recent migration, North American countries are now home to a large number of patients with thalassemia. Among these disorders, sickle cell syndromes and thalassemias constitute major public health problems.

Most laboratories use a combination of high-performance liquid chromatography (HPLC), capillary electrophoresis, molecular analysis, and mass spectrometry to diagnose thalassemias. Definite identification of hemoglobinopathies can be achieved by a stepwise alogrithmic approach that includes a detailed clinical history, HPLC, and molecular analysis. This presentation will review the pathophysiology, pertinent clinical and laboratory findings, and recent advances in the field.

Originally presented on June 28, 2016, in Salt Lake City, Utah.

Lecture Presenter

Archana Mishra Agarwal, MD

Archana Mishra Agarwal, MD

Medical Director, Hematopathology and RBC Laboratory
ARUP Laboratories
Assistant Professor, Department of Pathology
University of Utah School of Medicine

Dr. Agarwal is an assistant professor of pathology at the University of Utah School of Medicine. She received her MD at Delhi University in India and was a postdoctoral research scholar at the University of Iowa. She served as a pathology resident, a hematopathology fellow, and a molecular genetics pathology fellow at the University of Utah School of Medicine. Dr. Agarwal is board certified in hematopathology, anatomic pathology, and clinical pathology. She is also a member of several professional societies, including the College of American Pathologists and the American Society for Clinical Pathology. Dr. Agarwal’s research interests include red-cell enzymopathies, hemoglobinopathies, and molecular hematopathology.


After this presentation, participants will be able to:

  • Understand the pathophysiology of hemoglobinopathies and thalassemia.
  • Recognize the most important expected test results in hemoglobinopathies and thalassemias.
  • Be able to direct ordering physicians to appropriate tests for these disorders.

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories