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Case Report Open Access

Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report

  • Authors:
    • Na Sun
    • Peng Cheng
    • Dong‑Hong Deng
    • Rong‑Rong Liu
    • Yong‑Rong Lai
  • View Affiliations / Copyright

    Affiliations: Department of Hematology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530021, P.R. China
    Copyright: © Sun et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 23-26
    |
    Published online on: May 12, 2016
       https://doi.org/10.3892/br.2016.674
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Abstract

Reports of recurrent thromboembolism in thalassemia, particularly in hemoglobin H (HbH) disease associated with congenital thrombophilic mutations, are scarce. However, several mutations were detected in a 22‑year‑old woman with HbH disease. The patient experienced the first thrombotic event at the age of 20 years and had four recurrent thromboses in a short time interval, despite receiving anticoagulant treatment. The present study reports a case with six nucleotide substitutions, including a missense 565C>T (Arg189Trp) mutation and two synonymous mutations, 66T>C (Pro22Pro) and 423G>T (Ser141Ser), identified in the protein C gene. The other three mutations, 947G>A (Arg316His), 981A>G (Val327Val), and 775C>A (rs13146272), were identified in the protein S, antithrombin and cytochrome P450, family 4, subfamily V, polypeptide 2 genes, respectively. These findings suggest that if thrombotic events repeatedly occur in a patient with thalassemia, not only the risk factors associated with a hypercoagulable state, but the acquired and congenital thrombophilia should be screened for.
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Copy and paste a formatted citation
Spandidos Publications style
Sun N, Cheng P, Deng DH, Liu RR and Lai YR: Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report. Biomed Rep 5: 23-26, 2016.
APA
Sun, N., Cheng, P., Deng, D., Liu, R., & Lai, Y. (2016). Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report. Biomedical Reports, 5, 23-26. https://doi.org/10.3892/br.2016.674
MLA
Sun, N., Cheng, P., Deng, D., Liu, R., Lai, Y."Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report". Biomedical Reports 5.1 (2016): 23-26.
Chicago
Sun, N., Cheng, P., Deng, D., Liu, R., Lai, Y."Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report". Biomedical Reports 5, no. 1 (2016): 23-26. https://doi.org/10.3892/br.2016.674
Copy and paste a formatted citation
x
Spandidos Publications style
Sun N, Cheng P, Deng DH, Liu RR and Lai YR: Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report. Biomed Rep 5: 23-26, 2016.
APA
Sun, N., Cheng, P., Deng, D., Liu, R., & Lai, Y. (2016). Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report. Biomedical Reports, 5, 23-26. https://doi.org/10.3892/br.2016.674
MLA
Sun, N., Cheng, P., Deng, D., Liu, R., Lai, Y."Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report". Biomedical Reports 5.1 (2016): 23-26.
Chicago
Sun, N., Cheng, P., Deng, D., Liu, R., Lai, Y."Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report". Biomedical Reports 5, no. 1 (2016): 23-26. https://doi.org/10.3892/br.2016.674
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