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Fibrinogen Birmingham: A Heterozygous Dysfibrinogenemia (Aα 16 Arg → His) Containing Heterodimeric Molecules, Kevin R. Siebenlist, J. T. Prchal, Michael W. Mosesson

Biomedical Sciences Faculty Research and Publications

Fibrinogen was isolated from the plasma of a 25-year-old female with a history of mild bleeding and several recent moderate to severe hemorrhagic episodes. Coagulability with thrombin approached 100% and varied directly with the time of incubation with the enzyme. High- performance liquid chromatography analysis of thrombin-induced fibrinopeptide release demonstrated retarded fibrinopeptide A (FPA) and fibrinopeptide B (FPB) release and the presence of an abnormal A peptide (FPA) amounting to 50% of the total. The same biochemical abnormalities were found in her asymptomatic father. Amino acid analysis and carboxypeptidase digestion of FPA demonstrated the substitution of His for Arg at …