Connect Sign InUpdate 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.
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
