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Article Open Access

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis

  • Authors:
    • Shiyue Ma
    • Jinqiu Qin
    • Aiqiu Wei
    • Xiaohong Li
    • Yuanyuan Qin
    • Lin Liao
    • Faquan Lin
  • View Affiliations / Copyright

    Affiliations: Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530021, P.R. China
    Copyright: © Ma et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 5903-5911
    |
    Published online on: February 26, 2018
       https://doi.org/10.3892/mmr.2018.8632
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Abstract

Hereditaryelliptocytosis (HE) is a hereditary hemolytic disease, characterized by the presence of many elliptical erythrocytes in the peripheral blood that is caused by abnormal cytoskeletal proteins in the erythrocyte membrane. In the present study, a novel, causal HE mutation was reported. Routine blood examinations were performed on the proband and their family, and the fluorescence intensity of eosin‑5‑maleimide (EMA)‑labeled erythrocytes was determined via flow cytometry. Subsequently, DNA was extracted from the peripheral blood of the proband and their family members, and amplified by quantitative polymerase chain reaction. The Sanger sequencing approach was used to determine and identify gene mutations, which were verified by matrix‑assisted laser desorption‑ionization time of flight (MALDI‑TOF) mass spectrometry. To exclude genetic polymorphisms, newly identified mutations were subjected to large‑scale gene screening using high‑resolution melt analysis. Protein expression levels in the erythrocyte membrane of the proband were determined via SDS‑PAGE, which demonstrated that, compared with healthy controls, the proband exhibited a reduction in EMA‑labeled erythrocytes. In addition, DNA analysis demonstrated that the proband carried three mutations in the spectrin α chain erythrocytic 1 (SPTA1) gene: c.161A>C, c.5572C>G and 6531‑12C>T. The corresponding mutant polypeptides were also analyzed by MALDI‑TOF mass spectroscopy. SDS‑PAGE analysis indicated that the proband exhibited normal levels of erythrocyte membrane proteins. In the present study, a novel HE case with a His54Pro mutation in the SPTA1 gene was reported. The results suggested that the His54Pro mutation influenced the role of erythrocyte membrane proteins without reducing its level of expression.
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Copy and paste a formatted citation
Spandidos Publications style
Ma S, Qin J, Wei A, Li X, Qin Y, Liao L and Lin F: Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis. Mol Med Rep 17: 5903-5911, 2018.
APA
Ma, S., Qin, J., Wei, A., Li, X., Qin, Y., Liao, L., & Lin, F. (2018). Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis. Molecular Medicine Reports, 17, 5903-5911. https://doi.org/10.3892/mmr.2018.8632
MLA
Ma, S., Qin, J., Wei, A., Li, X., Qin, Y., Liao, L., Lin, F."Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis". Molecular Medicine Reports 17.4 (2018): 5903-5911.
Chicago
Ma, S., Qin, J., Wei, A., Li, X., Qin, Y., Liao, L., Lin, F."Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis". Molecular Medicine Reports 17, no. 4 (2018): 5903-5911. https://doi.org/10.3892/mmr.2018.8632
Copy and paste a formatted citation
x
Spandidos Publications style
Ma S, Qin J, Wei A, Li X, Qin Y, Liao L and Lin F: Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis. Mol Med Rep 17: 5903-5911, 2018.
APA
Ma, S., Qin, J., Wei, A., Li, X., Qin, Y., Liao, L., & Lin, F. (2018). Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis. Molecular Medicine Reports, 17, 5903-5911. https://doi.org/10.3892/mmr.2018.8632
MLA
Ma, S., Qin, J., Wei, A., Li, X., Qin, Y., Liao, L., Lin, F."Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis". Molecular Medicine Reports 17.4 (2018): 5903-5911.
Chicago
Ma, S., Qin, J., Wei, A., Li, X., Qin, Y., Liao, L., Lin, F."Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis". Molecular Medicine Reports 17, no. 4 (2018): 5903-5911. https://doi.org/10.3892/mmr.2018.8632
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