Molecular Diagnosis in Neonatal Hereditary Hemolytic Anemia

 

Hereditary hemolytic anemia (HHA) is a group of heterogeneous disorders with diverse genetic etiologies. The clinical presentation ranges from mild hemolytic anemia to severe, transfusion-dependent hemolytic anemia with varied complications. In neonates, one of these complications is unconjugated hyperbilirubinemia, which may lead to neurotoxicity. Next generation sequencing (NGS) studies facilitate the identification of these complex multigene disorders.

Originally presented on December 7, 2021, in Salt Lake City, Utah.

Lecture Presenter

Archana Mishra Agarwal, MD

Archana Mishra Agarwal, MD

Associate Professor
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, and she is 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 all 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 the causes of neonatal hereditary hemolytic anemia (HHA)
  • Identify the limitations of routine diagnostic tests in these disorders
  • Discuss the association of HHA with neonatal hyperbilirubinemia/acute bilirubin encephalopathy
  • Recognize the advantages of molecular diagnostic tests in these disorders

Sponsored by:

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