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.
