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 an...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.展开更多
文摘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.
