A Chinese family with congenital Dysfibrinogenemia carries a heterozygous missense mutation in FGA: Concerningthe genetic abnormality and clinical treatment

Authors

  • Jihao Zhou Department of Hematology, The Second Medical College (Shenzhen People’s Hospital), Jinan University, Shenzhen, Guangdong Province, P.R. China
  • Peng Zhu Key Laboratory, The Second Medical College (Shenzhen People’s Hospital), Jinan University, Shenzhen, Guangdong Province, P.R. China
  • Xinyou Zhang Department of Hematology, The Second Medical College (Shenzhen People’s Hospital), Jinan University, Shenzhen, Guangdong Province, P.R. China

DOI:

https://doi.org/10.12669/pjms.334.12828

Keywords:

Dysfibrinogenemia, Fibrinogen replacement treatment, Mutation, Pulmonary embolism.

Abstract

Objectives: Congenital dysfibrinogenemia is a rare hereditary disease characterized by normal antigen level but lower function level of fibrinogen. Patients with congenital dysfibrinogenemia usually present as bleeding and/or thrombotic events. In this study, we explored the genetic abnormality and clinical treatment of a Chinese family with dysfibrinogenemia.

Methods: This study was conducted in Jan 2015 to Jan 2016 in the Second Medical College (Shenzhen People

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Published

2017-08-23

How to Cite

Zhou, J., Zhu, P., & Zhang, X. (2017). A Chinese family with congenital Dysfibrinogenemia carries a heterozygous missense mutation in FGA: Concerningthe genetic abnormality and clinical treatment. Pakistan Journal of Medical Sciences, 33(4). https://doi.org/10.12669/pjms.334.12828

Issue

Vol. 33 No. 4 (2017): July – August 2017

Section

Original Articles