| Objective: The retrospective analysis of our hospital were 2 cases of repeated anemia,yellow skin,abdominal pain,splenomegaly children with clinical diagnosis and treatment process,combined with related literature review,summarizes the genetic spherocycytosis(Hereditary Spherocytosis,HS)clinical manifestations,laboratory examination,genetic analysis,the characteristics of the diagnosis and treatment process,improve clinicians’ understanding of genetic diagnosis and treatment of spherocytosis.Methods:Clinical data of two children with HS were collected in the Pediatric inpatient Department of the Affiliated Hospital of Guilin Medical College,including clinical manifestation,laboratory tests,imaging tests,and genetic analysis.3ml of peripheral blood(EDTA anticoagulation)from two probands and all immediate family members was collected and verified by second-generation sequencing and Sanger."Hereditary polycytosis" and "SPTB gene" were searched through the Knowledge Internet of China(CNKI),Pubmed and other databases,and a total of 62 HS cases were reported at home and abroad from 2002 to 2022 were collected,and the clinical characteristics,genetic mutations and treatment were summarized.Results:All of the two probands had recurrent anemia,jaundice,enlarged spleen,cholelithiasis,and yellowish urine,and one had severe anemia with liver enlargement.two patients had no rebarrier crisis.Spheroid red blood cells were seen in the peripheral blood of two probands,of which 1 the proportion of peripheral blood cells was <10%;the erythrocyte permeability fragility test(Erythrocyte Osmotic Fragility Test,EOFT)was negative.2 patients underwent total splenectomy.The results of two probands by sequencing showed mutations in SPTB gene:exon 12,c.1715 del T mutation in the c.493＿494 ins TG mutation in exon 4 of SPTB gene in proband 2 from the mother.In this study,62 cases of HS have been reported at home and abroad from 2002 to 2022,Adding the 2 cases in this study to 64 cases;Among them,14 cases(21.88%)had SPTB gene mutations,19(29.69%),Two cases(3.12%),5 cases of SLC4A1 gene mutations(7.81%),1 case(1.56%)of EBP 42 gene mutation;64 patients at home and abroad were 8days to 51 years old,Median visit age was 9 years;Of the 64 patients,Male cases were 44(68.25%),Women were 20 cases(31.25%),The male to female ratio is 2.2:1.A positive family history in 64 patients was 26patients(40.62%);41(64.06%);skin yellow and abdominal pain 3(4.69%),5(7.81%),abdominal distension 1(1.56%),diarrhea 1(1.56%),urine yellow 3(4.69%),and 10(15.63%)of anemia.Laboratory findings in 64 patients showed 23(35.95%),moderate anemia 27(42.19%),severe anemia(including 1 newborn)14(21.88%),all reticulocyte proportion>2.0%,mean hemoglobin concentration(MCHC)334.9g/L 32(50%),44(68.75%)in 10%,and 15(23.44%);49(76.56%).The subsequent genotype-phenotype correlation study of common mutated genes(SPTB,ANK 1,SLC4A1)in HS patients showed a statistically significant age and mean hemoglobin concentration of red blood cells between the groups(P <0.05).Conclusions:1.This study is the first to report two new mutations in HS.The proband 1 has a heterozygous nonsense mutation in the SPTB gene c.1715 del T,and the proband 2 has a heterozygous nonsense mutation in the SPTB gene c.493＿494ins TG heterozygous frameshift mutation,highly suspected of c.1715 del T and c.493＿Mutations at the 494 ins TG locus are the causative factor in two patients with HS.2.Clinically,repeated anemia,yellow skin dye and large spleen appear.The possibility of HS should be considered after excluding other hemolytic anemia.It is suggested to improve the diagnosis of HS related examination as early as possible.3.Peripheral blood spherocytosis and positive EOFT are reliable evidence for the diagnosis of HS.4.Symptomatic treatment is feasible in patients with mild HS,and early surgical splenic resection is recommended for patients with severe HS in order to improve the long-term prognosis. |
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