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Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report

  • Authors:
    • Cunxin Xu
    • Ya Wu
    • Dujuan Wang
    • Xuemin Zhang
    • Ningling Wang
  • View Affiliations / Copyright

    Affiliations: Department of Neonatology, The Fourth Affiliated Hospital of Anhui Medical University, Heifei, Anhui 230012, P.R. China, Department of Pediatrics, The Second Affiliated Hospital of Anhui Medical University, Heifei, Anhui 230601, P.R. China
    Copyright: © Xu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 600
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    Published online on: July 28, 2022
       https://doi.org/10.3892/etm.2022.11537
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Abstract

Hereditary spherocytosis (HS) is an erythrocyte membrane disease with a non‑specific phenotype, particularly occurring in neonatal patients, and its diagnosis is challenging. The present study reports on a patient with neonatal HS and reviewed the genetic characteristics of reported neonatal HS cases in China. The patient was admitted only a few hours after birth with jaundice. Auxiliary examination indicated anemia and hyperbilirubinemia. Spherical erythrocytes were occasionally observed in peripheral blood smears. Genetic testing suggested that the patient harbored a novel frameshift mutation (p.Asp495fsTer78) in spectrum, β, erythrocytic (SPTB), which was carried by the father. Review of 160 cases of HS in China revealed 24 to be neonatal cases. In these neonatal cases, the frequency of ankyrin 1 (ANK1) mutations and loss‑of‑function mutations of pathogenic genes (including ANK1 and SPTB) was higher than that in the non‑neonatal group. In conclusion, the present study further expanded the mutation spectrum of SPTB and reaffirms the diagnostic value of gene detection in neonatal HS.
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1 

Delaunay J: The molecular basis of hereditary red cell membrane disorders. Blood Rev. 21:1–20. 2007.PubMed/NCBI View Article : Google Scholar

2 

Perrotta S, Gallagher PG and Mohandas N: Hereditary spherocytosis. Lancet. 372:1411–1426. 2008.PubMed/NCBI View Article : Google Scholar

3 

Wang R, Yang S, Xu M, Huang J, Liu H, Gu W and Zhang X: Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis. Sci China Life Sci. 61:947–953. 2018.PubMed/NCBI View Article : Google Scholar

4 

Wang D and Lai P: Global retardation and hereditary spherocytosis associated with a novel deletion of chromosome 8p11.21 encompassing KAT6A and ANK1. Eur J Med Genet. 63(104082)2020.PubMed/NCBI View Article : Google Scholar

5 

Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P and King MJ: General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis and management of hereditary spherocytosis-2011 update. Br J Haematol. 156:37–49. 2012.PubMed/NCBI View Article : Google Scholar

6 

Xie L, Xing Z, Li C, Liu SX and Wen FQ: Identification of a De Novo c.1000delA ANK1 mutation associated to hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice-case reports and review of the literature. BMC Med Genomics. 14(77)2021.PubMed/NCBI View Article : Google Scholar

7 

Wang D, Song L, Shen L, Zhang K, Lv Y, Gao M, Ma J, Wan Y, Gai Z and Liu Y: Mutational characteristics of causative genes in chinese hereditary spherocytosis patients: A report on fourteen cases and a review of the literature. Front Pharmacol. 12(644352)2021.PubMed/NCBI View Article : Google Scholar

8 

Wu C, Xiong T, Xu Z, Zhan C, Chen F, Ye Y, Wang H and Yang Y: Preliminary study on the clinical and genetic characteristics of hereditary spherocytosis in 15 Chinese children. Front Genet. 12(652376)2021.PubMed/NCBI View Article : Google Scholar

9 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al: Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar

10 

Sun Q, Xie Y, Wu P, Li S, Hua Y, Lu X and Zhao W: Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family. Hematology. 24:583–587. 2019.PubMed/NCBI View Article : Google Scholar

11 

Qin L, Nie Y, Zhang H, Chen L, Zhang D, Lin Y and Ru K: Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing. J Hum Genet. 65:427–434. 2020.PubMed/NCBI View Article : Google Scholar

12 

Christensen RD and Henry E: Hereditary spherocytosis in neonates with hyperbilirubinemia. Pediatrics. 125:120–125. 2010.PubMed/NCBI View Article : Google Scholar

13 

Liu Y, Zheng J, Song L, Fang Y, Sun C, Li N, Liu G and Shu J: A novel SPTB gene mutation in neonatal hereditary spherocytosis: A case report. Exp Ther Med. 20:3253–3259. 2020.PubMed/NCBI View Article : Google Scholar

14 

Tao YF, Deng ZF, Liao L, Qiu YL, Chen WQ and Lin FQ: Comparison and evaluation of three screening tests of hereditary spherocytosis in Chinese patients. Ann Hematol. 94:747–751. 2015.PubMed/NCBI View Article : Google Scholar

15 

Arora RD, Dass J, Maydeo S, Arya V, Kotwal J and Bhargava M: Utility of mean sphered cell volume and mean reticulocyte volume for the diagnosis of hereditary spherocytosis. Hematology. 23:413–416. 2018.PubMed/NCBI View Article : Google Scholar

16 

Liao L, Xu Y, Wei H, Qiu Y, Chen W, Huang J, Tao Y, Deng X, Deng Z, Tao H and Lin F: Blood cell parameters for screening and diagnosis of hereditary spherocytosis. J Clin Lab Anal. 33(e22844)2019.PubMed/NCBI View Article : Google Scholar

17 

Bianchi P, Fermo E, Vercellati C, Marcello AP, Porretti L, Cortelezzi A, Barcellini W and Zanella A: Diagnostic power of laboratory tests for hereditary spherocytosis: A comparison study in 150 patients grouped according to molecular and clinical characteristics. Haematologica. 97:516–523. 2012.PubMed/NCBI View Article : Google Scholar

18 

Crisp RL, Solari L, Vota D, García E, Miguez G, Chamorro ME, Schvartzman GA, Alfonso G, Gammella D, Caldarola S, et al: A prospective study to assess the predictive value for hereditary spherocytosis using five laboratory tests (cryohemolysis test, eosin-5'-maleimide flow cytometry, osmotic fragility test, autohemolysis test, and SDS-PAGE) on 50 hereditary spherocytosis families in Argentina. Ann Hematol. 90:625–634. 2011.PubMed/NCBI View Article : Google Scholar

19 

Christensen RD, Lambert DK, Henry E, Eggert LD, Yaish HM, Reading NS and Prchal JT: Unexplained extreme hyperbilirubinemia among neonates in a multihospital healthcare system. Blood Cells Mol Dis. 50:105–109. 2013.PubMed/NCBI View Article : Google Scholar

20 

Da Costa L, Suner L, Galimand J, Bonnel A, Pascreau T, Couque N, Fenneteau O and Mohandas N: Society of Hematology and Pediatric Immunology (SHIP) group; French Society of Hematology (SFH). Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer. Blood Cells Mol Dis. 56:9–22. 2016.PubMed/NCBI View Article : Google Scholar

21 

Christensen RD, Yaish HM and Gallagher PG: A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates. Pediatrics. 135:1107–1114. 2015.PubMed/NCBI View Article : Google Scholar

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Copy and paste a formatted citation
Spandidos Publications style
Xu C, Wu Y, Wang D, Zhang X and Wang N: Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report. Exp Ther Med 24: 600, 2022.
APA
Xu, C., Wu, Y., Wang, D., Zhang, X., & Wang, N. (2022). Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report. Experimental and Therapeutic Medicine, 24, 600. https://doi.org/10.3892/etm.2022.11537
MLA
Xu, C., Wu, Y., Wang, D., Zhang, X., Wang, N."Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report". Experimental and Therapeutic Medicine 24.3 (2022): 600.
Chicago
Xu, C., Wu, Y., Wang, D., Zhang, X., Wang, N."Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report". Experimental and Therapeutic Medicine 24, no. 3 (2022): 600. https://doi.org/10.3892/etm.2022.11537
Copy and paste a formatted citation
x
Spandidos Publications style
Xu C, Wu Y, Wang D, Zhang X and Wang N: Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report. Exp Ther Med 24: 600, 2022.
APA
Xu, C., Wu, Y., Wang, D., Zhang, X., & Wang, N. (2022). Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report. Experimental and Therapeutic Medicine, 24, 600. https://doi.org/10.3892/etm.2022.11537
MLA
Xu, C., Wu, Y., Wang, D., Zhang, X., Wang, N."Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report". Experimental and Therapeutic Medicine 24.3 (2022): 600.
Chicago
Xu, C., Wu, Y., Wang, D., Zhang, X., Wang, N."Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report". Experimental and Therapeutic Medicine 24, no. 3 (2022): 600. https://doi.org/10.3892/etm.2022.11537
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