A hereditary dysfibrinogenemia: fibrinogen Awaji.
Abnormal function of fibrinogen was observed in a 25-year-old woman with no symptoms attributable to dysfibrinogenemia. Disturbed polymerization of fibrin monomer was identified, but the release of fibrinopeptide from the purified fibrinogen and the cross-linking by factor XIII were normal. Other abnormal findings included a high value of fibrinogen degradation products, rapid mobility on immunoelectrophoresis and abnormal spot of gamma-chain on two-dimensional polyacrylamide gel electrophoresis. Similar abnormalities were also observed among the patient's family members.
D000328:Adult; D000347:Afibrinogenemia / Q000097:blood / Q000235:genetics*; D001769:Blood; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005337:Fibrin / Q000378:metabolism; D005338:Fibrin Fibrinogen Degradation Products / Q000096:biosynthesis; D005340:Fibrinogen / Q000145:classification / Q000378:metabolism; D015241:Fibrinogens, Abnormal; D005344:Fibrinopeptide A / Q000378:metabolism; D006801:Humans; D009994:Osmolar Concentration; D010375:Pedigree; D011108:Polymers / Q000096:biosynthesis; D013917:Thrombin / Q000378:metabolism; D013918:Thrombin Time
D005338:Fibrin Fibrinogen Degradation Products; D015241:Fibrinogens, Abnormal; D011108:Polymers; C052773:fibrinogen Awaji; D005344:Fibrinopeptide A; D005337:Fibrin; D005340:Fibrinogen; D013917:Thrombin