Journal List > Korean J Hematol > v.40(1) > 1032647

Kim, Park, Kwon, Chung, and Lee: Biochemical Characteristics of Dysfunctional Fibrinogen Found in 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.

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Fig. 1.
Lung perfusion scan indicating perfusion defects in the left lower lobe.
kjh-40-34f1.tif
Fig. 2.
Pedigree of the patient. F, Fibrinogen; PT, Prothrombin time (INR).
kjh-40-34f2.tif
Fig. 3.
Subunit polypeptides of purified fibrnogen examined by SDS-PAGE.
kjh-40-34f3.tif
Fig. 4.
Peptide analysis of purified fibrinogen catalyzed by thrombin or coagulation factor XIIIa, respectively.
kjh-40-34f4.tif
Fig. 5.
HPLC profile of thrombin-digested fibrinopeptides of hereditary dysfunctional fibrinogen.
kjh-40-34f5.tif
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