The study of inherited fibrinogen disorders allowing the association of defined mutations with specific defects provides significant insight into the location of functionally important sites in the fibrinogen molecule. Quantitative disorders of fibrinogen (afibrinogenemia and hypofibrinogenemia) are characterised by extensive allelic heterogeneity. More than seventy discrete mutations have been identified in these patients to date; various molecular mechanisms account for the deficiency of fibrinogen in the circulation. In all likelihood many more mutations will be identified in the future and one can only encourage hematologists or family physicians with patients to contribute to the research in progress.
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