Korean J Hematol.  2005 Mar;40(1):34-40. 10.5045/kjh.2005.40.1.34.

Biochemical Characteristics of Dysfunctional Fibrinogen Found in Korea

• Kim I
• Park S
• Kwon S
• Chung I
• Lee S

• KMID: 2252364
• DOI: http://doi.org/10.5045/kjh.2005.40.1.34

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.

Keyword

Dysfunctional fibrinogen; Biochemical characteristics

MeSH Terms

Adult
Chromatography, High Pressure Liquid
Electrophoresis, Polyacrylamide Gel
Factor XIII
Female
Fibrinogen*
Humans
Korea*
Molecular Structure
Prevalence
Thrombin
Thromboembolism
Thrombophilia
Venous Thromboembolism
Factor XIII
Fibrinogen
Thrombin

Figure

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  Fig. 1. Lung perfusion scan indicating perfusion defects in the left lower lobe.

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  Fig. 2. Pedigree of the patient. F, Fibrinogen; PT, Prothrombin time (INR).

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  Fig. 3. Subunit polypeptides of purified fibrnogen examined by SDS-PAGE.

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  Fig. 4. Peptide analysis of purified fibrinogen catalyzed by thrombin or coagulation factor XIIIa, respectively.

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  Fig. 5. HPLC profile of thrombin-digested fibrinopeptides of hereditary dysfunctional fibrinogen.

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