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

Sun,Na; Cheng,Peng; Deng,Dong‑Hong; Liu,Rong‑Rong; Lai,Yong‑Rong

doi:10.3892/br.2016.674

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

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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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