Update in Red Blood Cell Membrane Disorders



 

Hemolytic anemias due to abnormalities of the erythrocyte membrane comprise an important group of inherited disorders. These include hereditary spherocytosis (HS), hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) and hereditary stomatocytosis. These disorders are characterized by clinical, laboratory and genetic heterogeneity. HS is the most common inherited anemia in individuals of northern American descent affecting approximately 1 in 1000-2500 individuals depending on the diagnostic criteria. The clinical heterogeneity of these disorders range from in-utero transfusion to well compensated anemia. This presentation will address the different types of RBC membrane disorders, and its pathophysiology. Diagnostic techniques including utility of next generation sequencing (NGS) will also be discussed.

Originally presented on August 10, 2020 in Salt Lake City, Utah.


Lecture Presenter

Archana Agarwal, MD

Archana Agarwal, MD

Associate Professor of Pathology
University of Utah School of Medicine
Medical Director, Hematopathology and Special Genetics
ARUP Laboratories

Dr. Archana Mishra Agarwal is a medical director of hematopathology and special genetics at ARUP Laboratories and an associate professor at the University of Utah School of Medicine. Dr. Agarwal obtained her medical degree from Delhi University. She then completed her anatomic and clinical pathology residency, a fellowship in hematopathology, and a molecular genetic pathology fellowship at the University of Utah School of Medicine. Dr. Agarwal is board certified in anatomic and clinical pathology, hematology, and molecular genetic pathology. Her research interests include red-cell enzymopathies, hemoglobinopathies, and molecular hematopathology


Objectives

After this presentation, participants will be able to:

  • List different types of RBC membrane defects
  • Demonstrate ability to order appropriate tests and to correlate results of laboratory testing with specific RBC membrane defects
  • Describe the principles of different technologies used for the diagnosis of RBC membrane defects
  • Discuss the utility of NGS in diagnosis of these disorders

Sponsored by:

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