Connect Sign InLaboratory 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.
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.
