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.
Archana Mishra Agarwal, MD
Associate Professor, University of Utah School of Medicine
Medical Director, Hematopathology and Special Genetics, ARUP Laboratories