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Molecular Medicine Reports
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Print ISSN: 1791-2997 Online ISSN: 1791-3004
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January-2018 Volume 17 Issue 1

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Case Report

Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report

  • Authors:
    • Yan Yi
    • Xiqiang Dang
    • Yonggui Li
    • Chenyu Zhao
    • Haiyan Tang
    • Xiaoliu Shi
  • View Affiliations / Copyright

    Affiliations: Department of Haematology, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China, Department of Pediatrics, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China, Department of Medical Genetics, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China
  • Pages: 382-387
    |
    Published online on: October 25, 2017
       https://doi.org/10.3892/mmr.2017.7867
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Abstract

Patients with combined hereditary spherocytosis (HS) and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) deficiency have been reported sporadically. A discrepancy between the level of elevated serum bilirubin concentration and the degree of anemia may suggest the possibility of a coexistence of these conditions. In the present case report, a 20‑year‑old female presented with congenital jaundice and anemia, but did not present with the discrepancy between hyperbilirubinemia and anemia in the patient's childhood, and was not previously diagnosed with either HS or UGT1A1 deficiency. During a follow‑up of >10 years, the patient's hyperbilirubinemia accumulated progressively, whereas the patient's anemia became relatively mild. Upon further genetic analysis, it was determined that the patient had HS combined with UGT1A1 partial deficiency. Next generation sequencing combined with direct sequencing was used to identify a novel heterozygous mutation (c.G828T; p.Y276X) in the spectrin β gene, which is causative for HS. Sequence analysis of the patients' UGT1A1 gene revealed a compound heterozygote with c.G211A (p.G71R) and T3279G mutations, which reduced UGT1A1 activity to 30‑60% of the normal level. Genetic analysis was crucial for determining the diagnosis and pathogenesis of this unusual case.
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1 

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. View Article : Google Scholar : PubMed/NCBI

2 

Udomuksorn W, Elliot DJ, Lewis BC, Machenzie PI, Yoovathaworn K and Miners JO: Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates. Pharmacogenet Genomics. 17:1017–1029. 2007. View Article : Google Scholar : PubMed/NCBI

3 

Akaba K, Kimura T, Sasaki A, Tanabe S, Ikegami T, Hashimoto M, Umeda H, Yoshida H, Umetsu K, Chiba H, et al: Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: A common missense mutation among Japanese, Koreans and Chinese. Biochem Mol Biol Int. 46:21–26. 1998.PubMed/NCBI

4 

Tse WT and Lux SE: Red blood cell membrane disorders. Br J Haematol. 104:2–13. 1999. View Article : Google Scholar : PubMed/NCBI

5 

Garg PK, Kumar A, Teckchandani N and Hadke NS: Hereditary spherocytosis coexisting with Gilbert's syndrome: A diagnostic dilemma. Singapore Med J. 49:e308–e309. 2008.PubMed/NCBI

6 

Iijima S, Ohzeki T and Maruo Y: Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II. Yonsei Med J. 52:369–372. 2011. View Article : Google Scholar : PubMed/NCBI

7 

Sharma S, Vukelja SJ and Kadakia S: Gilbert's syndrome co-existing with and masking hereditary spherocytosis. Ann Hematol. 74:287–289. 1997. View Article : Google Scholar : PubMed/NCBI

8 

Girodon F, Garçon L, Bergoin E, Largier M, Delaunay J, Fénéant-Thibault M, Maynadié M, Couillaud G, Moreira S and Cynober T: Usefulness of the eosin-5′-maleimide cytometric method as a first-line screening test for the diagnosis of hereditary spherocytosis: Comparison with ektacytometry and protein electrophoresis. Br J Haematol. 140:468–470. 2008. View Article : Google Scholar : PubMed/NCBI

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. View Article : Google Scholar : PubMed/NCBI

10 

1000 Genomes Project Consortium, . Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME and McVean GA: A map of human genome variation from population-scale sequencing. Nature. 467:1061–1073. 2010. View Article : Google Scholar : PubMed/NCBI

11 

Hassoun H, Vassiliadis JN, Murray J, Njolstad PR, Rogus JJ, Ballas SK, Schaffer F, Jarolim P, Brabec V and Palek J: Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency. Blood. 90:398–406. 1997.PubMed/NCBI

12 

Maciag M, Płochocka D, Adamowicz-Salach A and Burzyńska B: Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. Br J Haematol. 146:326–332. 2009. View Article : Google Scholar : PubMed/NCBI

13 

Sugatani J, Yamakawa K, Yoshinari K, Machida T, Takagi H, Mori M, Kakizaki S, Sueyoshi T, Negishi M and Miwa M: Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia. Biochem Biophys Res Commun. 292:492–497. 2002. View Article : Google Scholar : PubMed/NCBI

14 

Delaunay J, Alloisio N, Morle L, Baklouti F, Dalla Venezia N, Maillet P and Wilmotte R: Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis. Ann Genet. 39:209–221. 1996.PubMed/NCBI

15 

van Es HH, Bout A, Liu J, Anderson L, Duncan AM, Bosma P, Oude Elferink R, Jansen PL, Chowdhury JR and Schurr E: Assignment of the human UDP glucuronosyltransferase gene (UGT1A1) to chromosome region 2q37. Cytogenet Cell Genet. 63:114–116. 1993. View Article : Google Scholar : PubMed/NCBI

16 

Yu Z, Zhu K, Wang L, Liu Y and Sun J: Association of neonatal hyperbilirubinemia with UGT1A1 gene polymorphisms: A meta-analysis. Med Sci Monit. 21:3104–3114. 2015. View Article : Google Scholar : PubMed/NCBI

17 

Yamamoto K, Sato H, Fujiyama Y, Doida Y and Bamba T: Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. Biochim Biophys Acta. 1406:267–273. 1998. View Article : Google Scholar : PubMed/NCBI

18 

del Giudice EM, Perrotta S, Nobili B, Specchia C, d'Urzo G and Iolascon A: Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. Blood. 94:2259–2262. 1999.PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Yi Y, Dang X, Li Y, Zhao C, Tang H and Shi X: Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report. Mol Med Rep 17: 382-387, 2018.
APA
Yi, Y., Dang, X., Li, Y., Zhao, C., Tang, H., & Shi, X. (2018). Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report. Molecular Medicine Reports, 17, 382-387. https://doi.org/10.3892/mmr.2017.7867
MLA
Yi, Y., Dang, X., Li, Y., Zhao, C., Tang, H., Shi, X."Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report". Molecular Medicine Reports 17.1 (2018): 382-387.
Chicago
Yi, Y., Dang, X., Li, Y., Zhao, C., Tang, H., Shi, X."Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report". Molecular Medicine Reports 17, no. 1 (2018): 382-387. https://doi.org/10.3892/mmr.2017.7867
Copy and paste a formatted citation
x
Spandidos Publications style
Yi Y, Dang X, Li Y, Zhao C, Tang H and Shi X: Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report. Mol Med Rep 17: 382-387, 2018.
APA
Yi, Y., Dang, X., Li, Y., Zhao, C., Tang, H., & Shi, X. (2018). Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report. Molecular Medicine Reports, 17, 382-387. https://doi.org/10.3892/mmr.2017.7867
MLA
Yi, Y., Dang, X., Li, Y., Zhao, C., Tang, H., Shi, X."Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report". Molecular Medicine Reports 17.1 (2018): 382-387.
Chicago
Yi, Y., Dang, X., Li, Y., Zhao, C., Tang, H., Shi, X."Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report". Molecular Medicine Reports 17, no. 1 (2018): 382-387. https://doi.org/10.3892/mmr.2017.7867
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