Original Article
Korean J Hematol 2005; 40(1):
Published online March 30, 2005
https://doi.org/10.5045/kjh.2005.40.1.34
© The Korean Society of Hematology
한국인에서 발견된 유전성 이상섬유소원의 생화학적 특성
김인호, 박선양, 권수미, 정인숙, 이상윤
서울대학교 의과대학 내과학교실
Biochemical Characteristics of Dysfunctional Fibrinogen Found in Korea
Background:
Hereditary dysfibrinogenemia is a rare cause of venous thromboembolism. Hereditary thrombophilia is diagnosed in about 10% of patients with thromboembolism, with the prevalence diagnosed increasing with the development of molecular biological method.
Methods:
A 27-year-old woman was strongly suspected to have hereditary dysfibrinogenemia; therfore, an analysis of the molecular structure of the purified fibrinogen was performed.
Results:
An SDS-PAGE analysis of the purified fibrinogen revealed no abnormal finding. The purified fibrinogen was treated with thrombin or coagulation factor XIII, and the products show no difference between the normal and patient's specimen on SDS-PAGE analysis. However, an HPLC analysis showed an additional abnormal peak prior to the normal fibrinopeptid A peak.
Conclusion:
A dysfunctional fibrinogen showing an abnormal peak on HPLC analysis was detected in a Korean patient. Her family also showed dysfunctional fibrinogen. In a Korean patient with recurrent thromboembolism, hereditary dysfibrinogenemia should also be taken into consideration.
Keywords Dysfunctional fibrinogen, Biochemical characteristics
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Original Article
Korean J Hematol 2005; 40(1): 34-40
Published online March 30, 2005 https://doi.org/10.5045/kjh.2005.40.1.34
Copyright © The Korean Society of Hematology.
한국인에서 발견된 유전성 이상섬유소원의 생화학적 특성
김인호, 박선양, 권수미, 정인숙, 이상윤
서울대학교 의과대학 내과학교실
Biochemical Characteristics of Dysfunctional Fibrinogen Found in Korea
In ho Kim, Seonyang Park, Soo mee Kwon, In sook Chung , Sang yoon Lee
Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea
Abstract
Background:
Hereditary dysfibrinogenemia is a rare cause of venous thromboembolism. Hereditary thrombophilia is diagnosed in about 10% of patients with thromboembolism, with the prevalence diagnosed increasing with the development of molecular biological method.
Methods:
A 27-year-old woman was strongly suspected to have hereditary dysfibrinogenemia; therfore, an analysis of the molecular structure of the purified fibrinogen was performed.
Results:
An SDS-PAGE analysis of the purified fibrinogen revealed no abnormal finding. The purified fibrinogen was treated with thrombin or coagulation factor XIII, and the products show no difference between the normal and patient's specimen on SDS-PAGE analysis. However, an HPLC analysis showed an additional abnormal peak prior to the normal fibrinopeptid A peak.
Conclusion:
A dysfunctional fibrinogen showing an abnormal peak on HPLC analysis was detected in a Korean patient. Her family also showed dysfunctional fibrinogen. In a Korean patient with recurrent thromboembolism, hereditary dysfibrinogenemia should also be taken into consideration.
Keywords: Dysfunctional fibrinogen, Biochemical characteristics
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