Fibrinogen Adelaide: a familial hypodysfibrinogenaemia associated with abnormal alpha chains

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Abstract
A familial hypodysfibrinogenemia occurring in 4 females with occasional hemorrhagic problems in an Adelaide family was investigated. Affected family members had slightly prolonged thrombin time, prothrombin time and Reptilase time tests, and apparently elevated levels of fibrin degradation productds (FDP). Fibrinogen assessed by reactivity with thrombin (Clauss method) was significantly less than fibrinogen determined by various other methods, though even by immunoquantitation fibrinogen levels were only slightly above half normal in affected family members. Isoelectric focusing (IEF) of the reduced patient''s fibrinogen in urea/polyacrylamide gel revealed minor components with higher isoelectric points (pI) than present in normal fibrinogen or fibrin. These were shown to have a MW similar to the .alpha. chain of fibrin by subsequent sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE). The abnormal species tended to remain in plasma after clotting with Reptilase or thrombin although polymerization of the clotted fibrin was normal. The magnitude of the pI [isoelectric point] shift relative to normal fibrin .alpha. chain indicated an increased positive charge on the abnormal species.