An abnormal fibrinogen with delayed fibrinopeptide A release.
Investigation of the family of a patient presenting with haematuria revealed seven cases in three generations showing a prolonged thrombin clotting time. A dysfibrinogenaemia was confirmed when purified fibrinogen from an affected member of the family was shown to also exhibit a prolonged thrombin clotting time. No molecular abnormality could be demonstrated using electrophoretic and immunological techniques. However, using a specific radioimmunoassay to fibrinopeptide A a major defect has been localized to a delay in the rate of release of this peptide by thrombin when the abnormal fibrinogen is converted to fibrin. This case of dysfibrinogenaemia has been tentatively designated fibrinogen Manchester.
D001778:Blood Coagulation Disorders / Q000097:blood / Q000235:genetics*; D001780:Blood Coagulation Tests; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005340:Fibrinogen / Q000378:metabolism*; D005344:Fibrinopeptide A / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013918:Thrombin Time
D005344:Fibrinopeptide A; D005340:Fibrinogen