Clinical manifestations of adult hereditary spherocytosis with novel SPTB gene mutations and hyperjaundice:A case report  

作　　者：Ni Jiang Wu-Yong Mao Bing-Xue Peng Ting-Ya Yang Xiao-Rong Mao 

机构地区：[1]Department of Infectious Diseases,The First Hospital of Lanzhou University,Lanzhou 730000,Gansu Province,China

出　　处：《World Journal of Clinical Cases》2023年第6期1349-1355,共7页世界临床病例杂志

基　　金：Supported by Natural Science Foundation of Gansu Province,No. 21JR1RA070;Construction of Clinical Medical Research Center,No. 21JR7RA392

摘　　要：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.

关 键 词：Gall-stone JAUNDICE Hereditary spherocytosis Gene mutations ADULT Case report 

分 类 号：R555.1[医药卫生—血液循环系统疾病]