BACKGROUND The aim of the present study was to enhance understanding of the diagnosis and treatment of atypical hereditary spherocytosis(HS),and to broaden the diagnostic thoughts of physicians for patients with jaund...BACKGROUND The aim of the present study was to enhance understanding of the diagnosis and treatment of atypical hereditary spherocytosis(HS),and to broaden the diagnostic thoughts of physicians for patients with jaundice.CASE SUMMARY A 28-year-old male presented with jaundice,bile duct stone,and splenomegaly,but without anemia.Other causes of jaundice were excluded,and gene se-quencing revealed a novel heterozygous variant of c.1801C>T(p.Q601X)in exon 14 of the SPTB(NM_01355436)gene on chromosome 14(chr14:65260580)in the patient’s blood;the biological parents and child of the patient did not have similar variants.A splenectomy was performed on the patient and his bilirubin levels returned to normal after surgery.Thus,a novel gene variant causing HS was identified.This variant may result in the truncation ofβ-hemoglobin in the erythrocyte membrane,leading to loss of normal function,jaundice,and hemolytic anemia.The clinical manifestations of the patient were hyperjaundice and an absence of typical hemolysis during the course of the disease,which caused challenges for diagnosis by the clinicians.CONCLUSION Following a definitive diagnosis,genetic testing and response to treatment identified a gene variant site for a novel hemolytic anemia.展开更多
基金Supported by Natural Science Foundation of Gansu Province,No. 21JR1RA070Construction of Clinical Medical Research Center,No. 21JR7RA392
文摘BACKGROUND The aim of the present study was to enhance understanding of the diagnosis and treatment of atypical hereditary spherocytosis(HS),and to broaden the diagnostic thoughts of physicians for patients with jaundice.CASE SUMMARY A 28-year-old male presented with jaundice,bile duct stone,and splenomegaly,but without anemia.Other causes of jaundice were excluded,and gene se-quencing revealed a novel heterozygous variant of c.1801C>T(p.Q601X)in exon 14 of the SPTB(NM_01355436)gene on chromosome 14(chr14:65260580)in the patient’s blood;the biological parents and child of the patient did not have similar variants.A splenectomy was performed on the patient and his bilirubin levels returned to normal after surgery.Thus,a novel gene variant causing HS was identified.This variant may result in the truncation ofβ-hemoglobin in the erythrocyte membrane,leading to loss of normal function,jaundice,and hemolytic anemia.The clinical manifestations of the patient were hyperjaundice and an absence of typical hemolysis during the course of the disease,which caused challenges for diagnosis by the clinicians.CONCLUSION Following a definitive diagnosis,genetic testing and response to treatment identified a gene variant site for a novel hemolytic anemia.
