Severe hyperbilirubinemia in a neonate with hereditary spherocytosis due to a de novo ankyrin mutation: A case report  

作　　者：Jun-Fang Wang Li Ma Xiao-Hui Gong Cheng Cai Jing-Jing Sun 

机构地区：[1]Department of Neonatology,Shanghai Children’s Hospital,Shanghai Jiao Tong University,Shanghai 200062,China [2]NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology,Shanghai Key Laboratory of Embryo and Reproduction Engineering,Shanghai 200062,China

出　　处：《World Journal of Clinical Cases》2021年第19期5245-5251,共7页世界临床病例杂志

基　　金：Shanghai Jiao Tong University“Jiao Tong Star”Medical-Industrial Cross-Research Fund,No.YG2019ZDA01;Shanghai Key Clinical Specialty Project,No.shslczdzk05705.

摘　　要：BACKGROUND Hereditary spherocytosis(HS)is a common type of hemolytic anemia caused by a red cell membrane disorder.HS type 1(HS1)is mostly caused by mutations in ankyrin(ANK1).Newborns with HS1 usually only exhibit anemia and mild jaundice.We herein report a case of HS1 and discuss its clinical characteristics.CASE SUMMARY A 2-d-old male full-term newborn was admitted to our hospital with severe,intractable neonatal jaundice.Laboratory investigations showed hemolytic anemia and hyperbilirubinemia and excluded immune-mediated hemolysis.The patient underwent two exchange transfusions and one plasmapheresis resulting in significantly reduced serum bilirubin.Hematologic analyses and genomic DNA sequencing studies were performed.The trio clinical exome sequencing revealed a de novo null heterozygous mutation in the patient's ANK1 gene:c.841C>T(p.Arg281Ter).This mutation results in the premature termination of the ANK1 protein.CONCLUSION Our case demonstrates that genetic analysis can be an essential method for diagnosing HS when a newborn has severe hyperbilirubinemia.

关 键 词：Hereditary spherocytosis ANKYRIN NEONATE Intractable neonatal jaundice Case report 

分 类 号：R722.1[医药卫生—儿科]